ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.4609G>A (p.Val1537Met)

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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 RCV002570074 SCV002935247 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-04-23 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1537 of the DNAH1 protein (p.Val1537Met). This variant is present in population databases (rs768532151, gnomAD 0.003%). This missense change has been observed in individual(s) with primary ciliary dyskinesia (PMID: 34768622). ClinVar contains an entry for this variant (Variation ID: 1898586). 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 with a positive 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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