ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2264T>C (p.Leu755Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002776168 SCV003031832 likely pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-08-31 criteria provided, single submitter clinical testing 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. This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 755 of the CRB1 protein (p.Leu755Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Leber congenital amaurosis and/or retinoschisis (PMID: 32141364; Invitae). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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