ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.1138G>A (p.Ala380Thr)

gnomAD frequency: 0.00003  dbSNP: rs564408891
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001309489 SCV001498989 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2022-08-05 criteria provided, single submitter clinical testing This variant is present in population databases (rs564408891, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 380 of the DNAH1 protein (p.Ala380Thr). ClinVar contains an entry for this variant (Variation ID: 1011657). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.

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