ClinVar Miner

Submissions for variant NM_004700.4(KCNQ4):c.1438C>T (p.Gln480Ter)

dbSNP: rs1648636515
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215415 SCV001387160 pathogenic not provided 2019-07-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KCNQ4 are known to be pathogenic (PMID: 23717403). This variant has not been reported in the literature in individuals with KCNQ4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln480*) in the KCNQ4 gene. It is expected to result in an absent or disrupted protein product.
CeGaT Center for Human Genetics Tuebingen RCV001215415 SCV001961098 likely pathogenic not provided 2021-08-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446658 SCV004173776 likely pathogenic Autosomal dominant nonsyndromic hearing loss 2A 2023-04-11 criteria provided, single submitter clinical testing

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