ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.1144C>T (p.Arg382Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003059076 SCV003450294 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2022-07-14 criteria provided, single submitter clinical testing 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: "Probably Damaging"; Align-GVGD: "Class C0"). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 382 of the DNAH1 protein (p.Arg382Cys). This variant is present in population databases (rs546902854, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with DNAH1-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.

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