ClinVar Miner

Submissions for variant NM_001122769.3(LCA5):c.289A>G (p.Thr97Ala)

dbSNP: rs1387796294
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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 RCV001358972 SCV001554830 uncertain significance not provided 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 97 of the LCA5 protein (p.Thr97Ala). The threonine residue is weakly 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 LCA5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". 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. RCV001831185 SCV002077405 uncertain significance Leber congenital amaurosis 5 2020-07-12 no assertion criteria provided clinical testing

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