ClinVar Miner

Submissions for variant NM_000238.3(KCNH2):c.3321G>A (p.Ser1107=) (rs189457419)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618767 SCV000736325 likely benign Cardiovascular phenotype 2016-09-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Color RCV000777938 SCV000914035 likely benign Arrhythmia 2018-07-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588785 SCV000696031 uncertain significance not provided 2017-01-30 criteria provided, single submitter clinical testing Variant summary: The KCNH2 c.3321G>A (p.Ser1107Ser) variant causes a synonymous change involving the alteration of a non-conserved, which 4/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts alterations to ESE binding, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 1/114766, which does not exceed the estimated maximal expected allele frequency for a pathogenic KCNH2 variant of 1/10000. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance - Possibly Benign."
Invitae RCV000549341 SCV000627484 likely benign Long QT syndrome 2017-09-05 criteria provided, single submitter clinical testing

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