ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3949A>C (p.Asn1317His)

gnomAD frequency: 0.00001  dbSNP: rs62636281
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240026 SCV001412946 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-07-07 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change affects CRB1 function (PMID: 17660513). 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. ClinVar contains an entry for this variant (Variation ID: 99903). This variant has not been reported in the literature in individuals affected with CRB1-related conditions. This variant is present in population databases (rs62636281, gnomAD 0.0009%). This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 1317 of the CRB1 protein (p.Asn1317His).
Retina International RCV000086349 SCV000118495 not provided not provided no assertion provided not provided

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