ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.8312G>A (p.Arg2771His) (rs199643592)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458324 SCV000546298 uncertain significance Primary ciliary dyskinesia 2018-12-09 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 2771 of the DNAH5 protein (p.Arg2771His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs199643592, ExAC 0.006%). This variant has been observed in individual(s) with clinical features of DNAH5-related disease (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. 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.
Counsyl RCV000669970 SCV000794773 uncertain significance Ciliary dyskinesia, primary, 3 2017-10-16 criteria provided, single submitter clinical testing

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