NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) AND Patterned macular dystrophy 1

Germline classification:: Pathogenic/Likely pathogenic (3 submissions)
Last evaluated:: Jul 15, 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:: RCV001353001.12

Allele description [Variation Report for NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)]

NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)

Gene:

PRPH2:peripherin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

Preferred name:

NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)

HGVS:

NC_000006.12:g.42721911G>A
NG_009176.2:g.5710C>T
NM_000322.5:c.424C>TMANE SELECT
NP_000313.2:p.Arg142Trp
NP_000313.2:p.Arg142Trp
NC_000006.11:g.42689649G>A
NG_009176.1:g.5710C>T
NM_000322.4:c.424C>T

Protein change:

R142W; ARG142TRP

Links:

OMIM: 179605.0022; dbSNP: rs61755783

NCBI 1000 Genomes Browser:

rs61755783

Molecular consequence:

NM_000322.5:c.424C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Patterned macular dystrophy 1
Synonyms:: Macular dystrophy, butterfly-shaped pigmentary; Butterfly dystrophy of retinal pigment epithelium; Butterfly-shaped pigment dystrophy of the fovea
Identifiers:: MONDO: MONDO:0008210; MedGen: C4551999; Orphanet: 99001; OMIM: 169150

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001548094	Institute of Medical Molecular Genetics, University of Zurich	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 30, 2021)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 33546218
SCV002500972	Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana	no assertion criteria provided	Pathogenic (Apr 21, 2022)	de novo	research	PubMed (1) [See all records that cite this PMID]
SCV002581028	MGZ Medical Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 15, 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

SCV001548094

Institute of Medical Molecular Genetics, University of Zurich

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 30, 2021)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV002500972

Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana

no assertion criteria provided

Pathogenic
(Apr 21, 2022)

de novo

research

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

SCV002581028

MGZ Medical Genetics Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 15, 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	de novo	yes	1	not provided	not provided	not provided	not provided	research
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.

Maggi J, Koller S, Bähr L, Feil S, Kivrak Pfiffner F, Hanson JVM, Maspoli A, Gerth-Kahlert C, Berger W.

Int J Mol Sci. 2021 Feb 3;22(4). doi:pii: 1508. 10.3390/ijms22041508.

PubMed [citation]

PMID:: 33546218
PMCID:: PMC7913364

PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation.

Choi H, Cloutier A, Lally D.

Ophthalmic Genet. 2022 Apr;43(2):235-239. doi: 10.1080/13816810.2021.2015790. Epub 2021 Dec 14.

PubMed [citation]

PMID:: 34906036

See all PubMed Citations (3)

Details of each submission

From Institute of Medical Molecular Genetics, University of Zurich, SCV001548094.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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

From Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana, SCV002500972.1

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

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

From MGZ Medical Genetics Center, SCV002581028.1

#	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 3, 2024

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