ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.5062G>A (p.Ala1688Thr)

gnomAD frequency: 0.00001  dbSNP: rs755991808
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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 RCV001950271 SCV002219455 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1688 of the DNAH1 protein (p.Ala1688Thr). This variant is present in population databases (rs755991808, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1439869). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DNAH1 protein function. 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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