ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)

gnomAD frequency: 0.00002  dbSNP: rs145282040
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001053730 SCV001218006 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 710 of the CRB1 protein (p.Glu710Val). This variant is present in population databases (rs145282040, gnomAD 0.004%). This missense change has been observed in individual(s) with CRB1-related diseases (PMID: 20591486, 20956273, 28041643, 28559085). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 438073). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant disrupts the p.Glu710 amino acid residue in CRB1. Other variant(s) that disrupt this residue have been observed in individuals with CRB1-related conditions (PMID: 15024725), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV000504865 SCV001241033 pathogenic Retinal dystrophy 2018-08-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001783005 SCV002023389 likely pathogenic not provided 2019-10-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449434 SCV004180004 likely pathogenic Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449435 SCV004180005 likely pathogenic Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449433 SCV004180006 likely pathogenic Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003449434 SCV004211161 pathogenic Leber congenital amaurosis 8 2024-03-09 criteria provided, single submitter clinical testing
GeneDx RCV001783005 SCV005201577 likely pathogenic not provided 2023-06-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20591486, 32581362, 20956273, 28041643, 28559085)
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504865 SCV000598913 likely pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research
Natera, Inc. RCV001275649 SCV001460940 pathogenic Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing

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