ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.1093G>A (p.Ala365Thr)

dbSNP: rs374001771
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811429 SCV000951696 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2019-04-04 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 365 of the DNAH1 protein (p.Ala365Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs374001771, ExAC 0.03%). This variant has not been reported in the literature in individuals 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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