ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.5526_5540del (p.Ser1843_Ile1847del) (rs794728916)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183157 SCV000235573 uncertain significance not provided 2018-04-20 criteria provided, single submitter clinical testing The c.5529_5543del variant in the SCN5A gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. c.5529_5543del results in an in-frame deletion of five amino acids positions 1844-1848 in the SCN5A gene. Other in-frame deletions have been reported in the SCN5A gene in association with arrhythmia. With the clinical and molecular information available at this time, we cannot definitively determine if c.5529_5543del is a disease-causing mutation or a rare benign variant.
Invitae RCV000233838 SCV000291821 uncertain significance Brugada syndrome 2016-02-14 criteria provided, single submitter clinical testing This sequence change deletes 15 nucleotides from exon 28 of the SCN5A mRNA (c.5529_5543delGAGTGGGGACCGCAT). This leads to the deletion of 5 amino acid residue(s) in the SCN5A protein (p.Ser1844_Ile1848del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SCN5A-related disease. ClinVar contains an entry for this variant (Variation ID: 201563). In summary, this is a novel in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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