ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.11519A>G (p.Lys3840Arg)

gnomAD frequency: 0.00002  dbSNP: rs759193789
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533390 SCV000623982 uncertain significance Primary ciliary dyskinesia 2019-08-08 criteria provided, single submitter clinical testing 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: "Probably 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. This variant has not been reported in the literature in individuals with DNAH8-related conditions. ClinVar contains an entry for this variant (Variation ID: 454540). This variant is present in population databases (rs759193789, ExAC 0.008%). This sequence change replaces lysine with arginine at codon 3840 of the DNAH8 protein (p.Lys3840Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine.

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