ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.6002C>T (p.Ser2001Phe)

gnomAD frequency: 0.00001  dbSNP: rs772200369
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549984 SCV000660273 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2017-03-21 criteria provided, single submitter clinical testing In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. 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 disruptive, but these predictions have not been confirmed by published functional studies. This variant is present in population databases (rs772200369, ExAC 0.01%) but has not been reported in the literature in individuals with a DNAH1-related disease. This sequence change replaces serine with phenylalanine at codon 2001 of the DNAH1 protein (p.Ser2001Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine.

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