ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.1003C>T (p.Pro335Ser)

dbSNP: rs1553628078
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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 RCV000543505 SCV000660178 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2017-06-16 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 335 of the DNAH1 protein (p.Pro335Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a DNAH1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on DNAH1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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