NM_003322.6(TULP1):c.1511_1521del (p.Leu504fs) AND Leber congenital amaurosis 15

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 4, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003992147.2

Allele description [Variation Report for NM_003322.6(TULP1):c.1511_1521del (p.Leu504fs)]

NM_003322.6(TULP1):c.1511_1521del (p.Leu504fs)

Gene:

TULP1:TUB like protein 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6p21.31

Genomic location:

Preferred name:

NM_003322.6(TULP1):c.1511_1521del (p.Leu504fs)

HGVS:

NC_000006.12:g.35498437_35498447del
NG_009077.1:g.19426_19436del
NM_001289395.2:c.1352_1362del
NM_003322.6:c.1511_1521delMANE SELECT
NP_001276324.1:p.Leu451fs
NP_003313.3:p.Leu504fs
NC_000006.11:g.35466212_35466222del
NC_000006.11:g.35466214_35466224del
NM_003322.4:c.1511_1521delTGCAGTTCGGC

Note:

ClinGen staff contributed the HGVS expression for this variant.

Protein change:

L451fs

Links:

OMIM: 602280.0008; dbSNP: rs1581734819

NCBI 1000 Genomes Browser:

rs1581734819

Molecular consequence:

NM_001289395.2:c.1352_1362del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003322.6:c.1511_1521del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Leber congenital amaurosis 15 (LCA15)
Identifiers:: MONDO: MONDO:0013457; MedGen: C3151206; Orphanet: 65; OMIM: 613843

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004810162	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 4, 2024)	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

SCV004810162

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 4, 2024)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004810162.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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