ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.11647G>A (p.Gly3883Ser)

gnomAD frequency: 0.00001  dbSNP: rs375133650
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559642 SCV000660202 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 3883 of the DNAH1 protein (p.Gly3883Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. 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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