ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.612-233G>C (rs1553706324)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623173 SCV000740754 likely pathogenic Inborn genetic diseases 2014-12-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
GeneDx RCV000579078 SCV000680580 uncertain significance not provided 2017-11-15 criteria provided, single submitter clinical testing A variant of unknown significance has been identified in an alternate transcript of the SCN5A gene. Although the c.612-1 G>C variant has not been reported as a pathogenic or benign to our knowledge, it is predicted to destroy the canonical splice acceptor site in intron 5 and may cause abnormal gene splicing. Additionally, the c.612-1 G>C variant is not observed in large population cohorts (Lek et al., 2016). Nonetheless, there is limited information about the clinical significance of variants on this alternate transcript. No splice site or loss-of-function variants in this transcript of the SCN5A gene have been reported in HGMD in association with disease (Stenson et al., 2014).

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