ClinVar Miner

Submissions for variant NM_000218.2(KCNQ1):c.642C>T (p.Cys214=) (rs775479779)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252358 SCV000320491 likely benign Cardiovascular phenotype 2015-11-17 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589449 SCV000695994 uncertain significance not provided 2016-08-22 criteria provided, single submitter clinical testing Variant summary: The KCNQ1 c.642C>T (p.Cys214Cys) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/120232 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic KCNQ1 variant (0.0001). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000631844 SCV000752941 likely benign Long QT syndrome 2017-08-27 criteria provided, single submitter clinical testing

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