ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2603C>T (p.Pro868Leu)

dbSNP: rs1664680830
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001306327 SCV001495695 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2020-09-09 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 868 of the CRB1 protein (p.Pro868Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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 not expected to disrupt CRB1 protein function. This variant has not been reported in the literature in individuals with CRB1-related conditions. This variant is not present in population databases (ExAC no frequency).
Natera, Inc. RCV001835489 SCV002090181 uncertain significance Leber congenital amaurosis 2020-12-02 no assertion criteria provided clinical testing

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