ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.2582A>G (p.Gln861Arg)

gnomAD frequency: 0.00001  dbSNP: rs1769214990
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047406 SCV001211363 uncertain significance Primary ciliary dyskinesia 2019-01-10 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 861 of the DNAH8 protein (p.Gln861Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. 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"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature.

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