ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.472G>A (p.Ala158Thr)

gnomAD frequency: 0.00006  dbSNP: rs780214104
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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 RCV001915266 SCV002167886 uncertain significance not provided 2021-10-19 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces alanine with threonine at codon 158 of the MERTK protein (p.Ala158Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant has not been reported in the literature in individuals affected with MERTK-related conditions. 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. 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 C55").
Fulgent Genetics, Fulgent Genetics RCV002482764 SCV002796886 uncertain significance Retinitis pigmentosa 38 2022-05-20 criteria provided, single submitter clinical testing

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