ClinVar Miner

Submissions for variant NM_000219.6(KCNE1):c.315G>A (p.Ser105=)

gnomAD frequency: 0.00005  dbSNP: rs563859144
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000609070 SCV000712286 likely benign not specified 2016-06-21 criteria provided, single submitter clinical testing p.Ser105Ser in Exon 3 of KCNE1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 2/66144 chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbS NP rs563859144).
Ambry Genetics RCV000621004 SCV000737666 benign Cardiovascular phenotype 2015-06-04 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Invitae RCV001477209 SCV001681439 likely benign Long QT syndrome 2021-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000866153 SCV001884879 benign not provided 2017-08-07 criteria provided, single submitter clinical testing

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