Submissions for variant NM_000218.3(KCNQ1):c.1710del (p.Ser571fs)

dbSNP: rs397508099

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003531943	SCV004294083	pathogenic	Long QT syndrome	2023-03-18	criteria provided, single submitter	clinical testing	This premature translational stop signal has been observed in individual(s) with long QT syndrome (PMID: 16414944). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser571Hisfs*22) in the KCNQ1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 106 amino acid(s) of the KCNQ1 protein. ClinVar contains an entry for this variant (Variation ID: 53011). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the KCNQ1 protein in which other variant(s) ( p.Arg632Glnfs*20) have been determined to be pathogenic (PMID: 10024302, 16981927, 19825999, 23098067, 23631430, 25187895). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing.
ClinVar Staff, National Center for Biotechnology Information (NCBI)	RCV000577806	SCV000678955	not provided	Long QT syndrome 1		no assertion provided	literature only