Submissions for variant NM_000218.3(KCNQ1):c.225T>C (p.Val75=)

gnomAD frequency: 0.00006  dbSNP: rs367817352

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150862	SCV000198421	likely benign	not specified	2013-04-10	criteria provided, single submitter	clinical testing	The Val75Val variant in exon 1 of KCNQ1: This variant is not expected to have cl inical significance because it does not alter an amino acid residue and is not l ocated within the splice consensus sequence.
GeneDx	RCV000150862	SCV000513353	benign	not specified	2016-10-04	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000458474	SCV000555796	likely benign	Long QT syndrome	2023-09-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618148	SCV000738188	likely benign	Cardiovascular phenotype	2017-10-05	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity	RCV003129790	SCV003811970	uncertain significance	not provided	2022-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004544353	SCV004766620	likely benign	KCNQ1-related disorder	2019-07-13	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).