ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.13417A>C (p.Ile4473Leu)

gnomAD frequency: 0.00011  dbSNP: rs200416428
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707645 SCV000836747 uncertain significance Primary ciliary dyskinesia 2022-08-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 4473 of the DNAH8 protein (p.Ile4473Leu). This variant is present in population databases (rs200416428, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with DNAH8-related conditions. ClinVar contains an entry for this variant (Variation ID: 583335). 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"). 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.
Fulgent Genetics, Fulgent Genetics RCV002493253 SCV002776482 uncertain significance Spermatogenic failure 46 2021-11-17 criteria provided, single submitter clinical testing
GeneDx RCV003319413 SCV004023711 uncertain significance not provided 2023-02-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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