ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.12286C>T (p.Arg4096Cys)

gnomAD frequency: 0.00001  dbSNP: rs375547860
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701977 SCV000830804 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2018-03-14 criteria provided, single submitter clinical testing 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DNAH1-related disease. This variant is present in population databases (rs375547860, ExAC 0.004%). This sequence change replaces arginine with cysteine at codon 4096 of the DNAH1 protein (p.Arg4096Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.

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