ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.-27_-15del

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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 RCV002975874 SCV003286842 uncertain significance Brugada syndrome 2021-09-02 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the SCN5A gene. It does not change the encoded amino acid sequence of the SCN5A protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SCN5A-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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