ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.382G>A (p.Val128Met) (rs200553244)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680160 SCV000807634 uncertain significance Ciliary dyskinesia, primary, 3 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory in trans with a known pathogenic mutation in a 14-year-old female with chronic lung disease, AV malformations, chylopericardium and pulmonary lymphangiectasia, skin nevi, absent puberty. Heterozygotes are expected to be asymptomatic carriers.
Invitae RCV000796103 SCV000935600 uncertain significance Primary ciliary dyskinesia 2018-08-14 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 128 of the DNAH5 protein (p.Val128Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs200553244, ExAC 0.05%). This variant has not been reported in the literature in individuals with DNAH5-related disease. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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