ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys)

dbSNP: rs201700675
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000371225 SCV000344474 uncertain significance not provided 2016-09-08 criteria provided, single submitter clinical testing
Invitae RCV001067120 SCV001232157 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-11-09 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 758 of the CRB1 protein (p.Ser758Cys). This variant is present in population databases (rs201700675, gnomAD 0.004%). This missense change has been observed in individual(s) with CRB1-related conditions (Invitae). 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: 290001). 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.
Natera, Inc. RCV001828271 SCV002090167 uncertain significance Leber congenital amaurosis 2019-11-11 no assertion criteria provided clinical testing

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