ClinVar Miner

Submissions for variant NM_000218.2(KCNQ1):c.648C>A (p.Gly216=) (rs146350010)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780366 SCV000917564 uncertain significance not specified 2017-12-04 criteria provided, single submitter clinical testing Variant summary: The KCNQ1 c.648C>A (p.Gly216Gly) variant involves the alteration of a non-conserved nucleotide causing a synonymous change and 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 3/245360 control chromosomes (gnomAD) at a frequency of 0.0000122, which does not exceed the estimated maximal expected allele frequency of a pathogenic KCNQ1 variant (0.0001). This variant has been reported in individual with SUD without strong evidence for causality. In addition, one other clinical diagnostic laboratory classified this variant as likely benign, without evidence for an independent evaluation. Taken together, this variant is classified as a "Variant of Uncertain Significance - Possibly Benign."
Invitae RCV000473193 SCV000555801 likely benign Long QT syndrome 2016-04-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000780366 SCV000966448 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Gly216Gly in Exon 04 of KCNQ1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1/7020 European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs146350010).

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