ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.5977G>A (p.Ala1993Thr)

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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 RCV003787230 SCV004576035 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-10-02 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 1993 of the DNAH1 protein (p.Ala1993Thr). This variant is present in population databases (rs761406402, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt DNAH1 protein function with a negative predictive value of 80%. 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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