ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro)

gnomAD frequency: 0.00001  dbSNP: rs769909288
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001390796 SCV001592643 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-28 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 611 of the CRB1 protein (p.Ser611Pro). This variant is present in population databases (rs769909288, gnomAD 0.05%). This missense change has been observed in individual(s) with retinitis pigementosa and Leber congenital amaurosis (PMID: 21602930, 24715753, 25356976, 25377065). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1076789). 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.
Fulgent Genetics, Fulgent Genetics RCV002488213 SCV002787800 likely pathogenic Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 2021-07-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451694 SCV004179969 likely pathogenic Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451695 SCV004179971 likely pathogenic Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451693 SCV004179972 likely pathogenic Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003451694 SCV004211163 pathogenic Leber congenital amaurosis 8 2024-02-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831405 SCV002090148 pathogenic Leber congenital amaurosis 2021-05-17 no assertion criteria provided clinical testing

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