ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.1074C>T (p.Phe358=) (rs17215465)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252365 SCV000318476 benign Cardiovascular phenotype 2015-08-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Color RCV000776080 SCV000910819 benign Arrhythmia 2018-03-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290497 SCV000370336 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347940 SCV000370337 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394385 SCV000370338 likely benign short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308018 SCV000370339 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341890 SCV000370340 likely benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589971 SCV000695986 benign not provided 2016-09-06 criteria provided, single submitter clinical testing Variant summary: The KCNQ1 c.1455C>T (p.Phe485Phe) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a polymorphism 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 737/121388 control chromosomes (15 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.0483468 (503/10404). This frequency is about 483 times the estimated maximal expected allele frequency of a pathogenic KCNQ1 variant (0.0001), indicating this is a benign polymorphism found primarily in the populations of African origin. In addition, one clinical diagnostic laboratory as well as publications classified this variant as benign. Taken together, this variant is classified as benign.
Invitae RCV000290497 SCV000555813 benign Long QT syndrome 2018-01-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035341 SCV000058989 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Phe485Phe in Exon 11 of KCNQ1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 4.6% (171/3738) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs17215465)."

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