ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.200del (p.Pro67fs)

dbSNP: rs1060500623
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000458842 SCV000543301 pathogenic Long QT syndrome 2016-04-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in KCNQ1 are known to be pathogenic (PMID: 19862833). This sequence change deletes 1 nucleotide from exon 1 of the KCNQ1 mRNA (c.200delC), causing a frameshift at codon 67. This creates a premature translational stop signal (p.Pro67Argfs*19) and is expected to result in an absent or disrupted protein product.

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