ClinVar Miner

Submissions for variant NM_019842.4(KCNQ5):c.2725C>T (p.Arg909Ter)

gnomAD frequency: 0.00001  dbSNP: rs776643693
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268915 SCV001448167 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Invitae RCV001268915 SCV002975254 uncertain significance not provided 2022-06-04 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 987506). This variant has not been reported in the literature in individuals affected with KCNQ5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg928*) in the KCNQ5 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 24 amino acid(s) of the KCNQ5 protein. 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.

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