ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1733T>A (p.Val578Glu)

dbSNP: rs1266363944
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376464 SCV001573613 uncertain significance Retinitis pigmentosa 12 2021-04-08 criteria provided, single submitter research The CRB1 c.1733T>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM3, PM2. Based on this evidence we have classified this variant as Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002549196 SCV003523993 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-16 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 578 of the CRB1 protein (p.Val578Glu). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individuals with CRB1-related conditions (PMID: 15459956, 23449718, 33921607). ClinVar contains an entry for this variant (Variation ID: 812298). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CRB1 protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002992 SCV001161046 likely pathogenic Leber congenital amaurosis 2019-06-23 no assertion criteria provided research

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