ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.484G>A (p.Val162Met) (rs137853138)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723716 SCV000114869 uncertain significance not provided 2013-10-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000006092 SCV000352781 likely benign Pigmented paravenous chorioretinal atrophy 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000353078 SCV000352782 likely benign Retinitis pigmentosa 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000262530 SCV000352783 likely benign Leber congenital amaurosis 8 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000082821 SCV000538737 uncertain significance not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Varinat (described as Val162Met) was reported in 1 proband with Pigmented paravenous chorioretinal atrophy (PPCRA) and segregated with disease in 5 affected family members (McKay 2005), and in 1 individual with RP (O'Sullivan 2012). MAF 1%.
Invitae RCV001080229 SCV001020838 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000006092 SCV000026274 pathogenic Pigmented paravenous chorioretinal atrophy 2005-01-01 no assertion criteria provided literature only

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