ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2275A>G (p.Thr759Ala)

dbSNP: rs1485086776
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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 RCV001213197 SCV001384818 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 759 of the CRB1 protein (p.Thr759Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C55". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Natera, Inc. RCV001828701 SCV002090168 uncertain significance Leber congenital amaurosis 2021-02-19 no assertion criteria provided clinical testing

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