ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.9671A>G (p.Asn3224Ser)

gnomAD frequency: 0.00044  dbSNP: rs201309675
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698752 SCV000827437 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2019-07-04 criteria provided, single submitter clinical testing 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with DNAH1-related disease. This variant is present in population databases (rs201309675, ExAC 0.2%). This sequence change replaces asparagine with serine at codon 3224 of the DNAH1 protein (p.Asn3224Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine.
Breakthrough Genomics, Breakthrough Genomics RCV004692157 SCV005189608 uncertain significance not provided criteria provided, single submitter not provided

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