ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.5978C>T (p.Ala1993Val)

gnomAD frequency: 0.00006  dbSNP: rs373242535
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822106 SCV000962892 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2022-06-26 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1993 of the DNAH1 protein (p.Ala1993Val). This variant is present in population databases (rs373242535, gnomAD 0.008%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 664089). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions.

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