ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.8815C>T (p.Arg2939Cys)

gnomAD frequency: 0.00001  dbSNP: rs1453330887
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214643 SCV001386332 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 2939 of the DNAH1 protein (p.Arg2939Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with clinical features of DNAH1-related conditions (Invitae). 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"). 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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