ClinVar Miner

Submissions for variant NM_000219.6(KCNE1):c.84G>A (p.Ser28=) (rs17173510)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155364 SCV000205051 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Ser28Ser in Exon 03 of KCNE1: 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 0.6% (40/7020) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs17173510)."
Invitae RCV000589403 SCV000283891 benign not provided 2019-02-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000248775 SCV000318604 benign Cardiovascular phenotype 2016-04-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Subpopulation frequency in support of benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155364 SCV000332686 benign not specified 2015-07-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000228309 SCV000435791 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393664 SCV000435792 likely benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298727 SCV000435793 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589403 SCV000695997 benign not provided 2016-08-09 criteria provided, single submitter clinical testing Variant summary: The KCNE1 c.84G>A (p.Ser28Ser) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this variant. This variant was found in 438/120954 control chromosomes at a frequency of 0.0036212, which is approximately 362 times the estimated maximal expected allele frequency of a pathogenic KCNE1 variant (0.00001), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign and multiple publications have classified the variant as "normal/polymorphism". Taken together, this variant is classified as benign.

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