ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.4527_4529dup (p.Pro1510dup) (rs1559727734)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705807 SCV000834822 uncertain significance Brugada syndrome 2018-11-30 criteria provided, single submitter clinical testing This variant, c.4530_4532dupCCC, results in the insertion of 1 amino acid to the SCN5A protein (p.Pro1511dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SCN5A-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids 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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