ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys)

gnomAD frequency: 0.00002  dbSNP: rs760544654
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073526 SCV001239073 pathogenic Retinal dystrophy 2019-05-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092289 SCV001248716 pathogenic not provided 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001378742 SCV001576381 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1331 of the CRB1 protein (p.Arg1331Cys). This variant is present in population databases (rs760544654, gnomAD 0.009%). This missense change has been observed in individuals with CRB1-related conditions (PMID: 24535598, 24811962; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 865928). 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. For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001696228 SCV001916498 pathogenic Retinitis pigmentosa 2021-09-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455325 SCV004180218 pathogenic Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455326 SCV004180219 pathogenic Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455324 SCV004180220 pathogenic Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003455325 SCV004211167 pathogenic Leber congenital amaurosis 8 2023-07-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005012536 SCV005637139 likely pathogenic Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-03-14 criteria provided, single submitter clinical testing

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