ClinVar Miner

Submissions for variant NM_014003.4(DHX38):c.716A>G (p.Tyr239Cys)

dbSNP: rs181471020
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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 RCV001306749 SCV001496131 uncertain significance not provided 2022-07-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1009284). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with DHX38-related conditions. This variant is present in population databases (rs181471020, gnomAD 0.007%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 239 of the DHX38 protein (p.Tyr239Cys).
Revvity Omics, Revvity RCV003145543 SCV003829115 uncertain significance Retinitis pigmentosa 84 2021-08-03 criteria provided, single submitter clinical testing

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