ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.11779G>A (p.Asp3927Asn)

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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 RCV002750402 SCV003013779 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 3927 of the DNAH1 protein (p.Asp3927Asn). This variant is present in population databases (rs765496759, gnomAD 0.04%). This missense change has been observed in individual(s) with multiple morphological abnormalities of the sperm flagella (PMID: 30811583). 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: "Benign"; 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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