ClinVar Miner

Submissions for variant NM_019842.4(KCNQ5):c.359A>C (p.Glu120Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV005052330 SCV005685524 uncertain significance Intellectual disability, autosomal dominant 46 2024-06-03 criteria provided, single submitter clinical testing The KCNQ5 c.359A>C (p.Glu120Ala) variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. This amino acid is not predicted to be in a functional domain, but is predicted to be located in a beta helix (protvar), and computational predictors indicate that the variant is damaging, evidence that correlates with impact to KCNQ5 function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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