ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.1610G>A (p.Ser537Asn)

gnomAD frequency: 0.00060  dbSNP: rs201302159
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000815472 SCV000955927 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-01-04 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 537 of the DNAH1 protein (p.Ser537Asn). This variant is present in population databases (rs201302159, gnomAD 0.2%). 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: 658618). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Revvity Omics, Revvity RCV003145185 SCV003831685 uncertain significance not provided 2021-01-27 criteria provided, single submitter clinical testing
GeneDx RCV003145185 SCV005078644 uncertain significance not provided 2024-05-23 criteria provided, single submitter clinical testing Observed in the heterozygous state in a patient with year-round wet cough, dyspnea, persistent hypoxemia, wheezing, and crackles (PMID: 34277212); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 35626283, 34277212)

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