ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.6822C>G (p.Asp2274Glu)

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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 RCV002903057 SCV003248169 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 2274 of the DNAH1 protein (p.Asp2274Glu). This variant is present in population databases (rs539311526, gnomAD 0.2%). This missense change has been observed in individual(s) with DNAH1-related conditions (PMID: 28577616). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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