ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.745G>A (p.Asp249Asn)

gnomAD frequency: 0.00001  dbSNP: rs1461964160
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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 RCV001364053 SCV001560185 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 249 of the CRB1 protein (p.Asp249Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CRB1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.
Natera, Inc. RCV001831247 SCV002090116 uncertain significance Leber congenital amaurosis 2021-02-22 no assertion criteria provided clinical testing

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