ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.393-5C>A (rs368678204)

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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 RCV000621244 SCV000737248 uncertain significance Cardiovascular phenotype 2017-02-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Blueprint Genetics RCV000157495 SCV000207240 uncertain significance Primary dilated cardiomyopathy 2014-09-29 no assertion criteria provided clinical testing
GeneDx RCV000225731 SCV000235321 uncertain significance not provided 2017-12-20 criteria provided, single submitter clinical testing The c.393-5 C>A variant has been reported previously in association with Brugada syndrome, Long QT syndrome (LQTS) and sudden cardiac death (Turley et al., 2005; Kapplinger et al., 2010; Sanchez et al., 2016). While one functional study suggests that this variant may lead to altered gene splicing (Frisso et al., 2016), in silico splice prediction models are not able to predict the effect of this variant on the protein. Nevertheless, the c.393-5 C>A variant was not observed in with any significant frequency in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project.
Invitae RCV000545458 SCV000637147 likely benign Brugada syndrome 2017-06-16 criteria provided, single submitter clinical testing

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