ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.1517C>T (p.Ala506Val)

gnomAD frequency: 0.00001  dbSNP: rs145732892
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000615810 SCV000711087 uncertain significance not specified 2017-08-10 criteria provided, single submitter clinical testing The p.Ala506Val variant in KCNQ4 has not been previously reported in individuals with hearing loss but has been identified in 1/111540 European chromosomes by t he Genome Aggregation Database (gnomAD,; dbSNP rs145732892). Computational prediction tools and conservation analyses suggest t hat this variant may not impact the protein, though this information is not pred ictive enough to rule out pathogenicity. In summary, the clinical significance o f the p.Ala506Val variant is uncertain.
GeneDx RCV003225096 SCV003921142 uncertain significance not provided 2023-04-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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
Genome-Nilou Lab RCV003446173 SCV004173809 uncertain significance Autosomal dominant nonsyndromic hearing loss 2A 2023-04-11 criteria provided, single submitter clinical testing

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