ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.6558_6559delinsCT (p.Pro2187Ser)

dbSNP: rs1578161696
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820611 SCV000961328 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2018-07-12 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 2187 of the DNAH1 protein (p.Pro2187Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. 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: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DNAH1-related disease. This variant is not present in population databases (ExAC no frequency). 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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