ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1472A>T (p.Asp491Val)

dbSNP: rs1664299898
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001237375 SCV001410132 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-08-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 491 of the CRB1 protein (p.Asp491Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with CRB1-related conditions (PMID: 20683928, 33546218; Invitae). ClinVar contains an entry for this variant (Variation ID: 963360). 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. 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.
Institute of Medical Molecular Genetics, University of Zurich RCV001352966 SCV001548042 likely pathogenic CRB1-related maculopathy 2021-01-30 criteria provided, single submitter clinical testing

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