ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.-7T>G

gnomAD frequency: 0.00003  dbSNP: rs863224816
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000199483 SCV000255229 uncertain significance Brugada syndrome 2015-03-29 criteria provided, single submitter clinical testing This sequence change falls in the 5' untranslated region of the SCN5A gene. It does not change the encoded amino acid sequence of the SCN5A protein. This variant has not been published in the literature and is not present in population databases. This change is not expected to affect splicing, but this prediction has not been confirmed by published transcriptional studies. Although variants in the 5' untranslated region of SCN5A have not been previously associated with disease, the clinical significance of this variant is unknown. As a result, it has been classified as a Variant of Uncertain Significance.

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