ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.12379C>T (p.Arg4127Cys) (rs148696723)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206124 SCV000259649 uncertain significance Primary ciliary dyskinesia 2015-07-29 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 4127 of the DNAH5 protein (p.Arg4127Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs148696723, 0.02%) but has not been published in the literature. 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Counsyl RCV000669663 SCV000794439 uncertain significance Ciliary dyskinesia, primary, 3 2017-09-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000206124 SCV001462292 uncertain significance Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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