ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.3662T>G (p.Leu1221Arg)

dbSNP: rs868651177
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792398 SCV000931694 uncertain significance Primary ciliary dyskinesia 2022-05-27 criteria provided, single submitter clinical testing 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. 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: "Not Available"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 639575). This variant has not been reported in the literature in individuals affected with DNAH8-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1221 of the DNAH8 protein (p.Leu1221Arg).

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