NM_000330.4(RS1):c.608C>T (p.Pro203Leu) AND Juvenile retinoschisis

Germline classification:: Pathogenic/Likely pathogenic (3 submissions)
Last evaluated:: Jan 7, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000010573.17

Allele description [Variation Report for NM_000330.4(RS1):c.608C>T (p.Pro203Leu)]

NM_000330.4(RS1):c.608C>T (p.Pro203Leu)

Genes:

CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
RS1:retinoschisin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.13

Genomic location:

Preferred name:

NM_000330.4(RS1):c.608C>T (p.Pro203Leu)

HGVS:

NC_000023.11:g.18642071G>A
NG_008475.1:g.221467G>A
NG_008659.3:g.40378C>T
NM_000330.4:c.608C>TMANE SELECT
NM_001037343.2:c.2714-3936G>A
NM_003159.3:c.2714-3936G>A
NP_000321.1:p.Pro203Leu
NP_000321.1:p.Pro203Leu
LRG_702t1:c.608C>T
LRG_702:g.40378C>T
LRG_702p1:p.Pro203Leu
NC_000023.10:g.18660191G>A
NM_000330.3:c.608C>T
O15537:p.Pro203Leu

Protein change:

P203L; PRO203LEU

Links:

UniProtKB: O15537#VAR_008253; OMIM: 300839.0010; dbSNP: rs104894930

NCBI 1000 Genomes Browser:

rs104894930

Molecular consequence:

NM_001037343.2:c.2714-3936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_003159.3:c.2714-3936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000330.4:c.608C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Juvenile retinoschisis (RS1)
Synonyms:: XJR; X-linked retinoschisis; Retinoschisis juvenile X chromosome-linked; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010725; MedGen: C3714753; Orphanet: 792; OMIM: 312700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030799	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 1999)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000486492	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Pathogenic (Jun 9, 2016)	unknown	clinical testing	PubMed (9) [See all records that cite these PMIDs] 17515881, 16167295, 18541843, 10636740, 10220153, 26356828, 10234514, 20061330, 9618178 mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf, Citation Link,
SCV002580716	MGZ Medical Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 7, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030799

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 1999)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV000486492

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Pathogenic
(Jun 9, 2016)

unknown

clinical testing

PubMed (9)
[See all records that cite these PMIDs]

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf,

Citation Link,

SCV002580716

MGZ Medical Genetics Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 7, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Nothing to display

See all PubMed Citations (10)

Details of each submission

From OMIM, SCV000030799.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a Greek family with retinoschisis (RS1; 312700), Gehrig et al. (1999) reported a C-to-T transition at nucleotide 608 of the RS1 gene resulting in the substitution of a leucine residue for a proline at position 203 (P203L) in the discoidin domain.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Counsyl, SCV000486492.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (9)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From MGZ Medical Genetics Center, SCV002580716.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 18, 2024

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