ClinVar Miner

Submissions for variant NM_001099404.2(SCN5A):c.647C>T (p.Ser216Leu)

gnomAD frequency: 0.00005  dbSNP: rs201002736
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001841018 SCV001354785 likely benign Cardiac arrhythmia 2019-01-07 criteria provided, single submitter clinical testing
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations RCV001293777 SCV001482442 benign Congenital long QT syndrome 2021-03-03 criteria provided, single submitter clinical testing We observed a genetic variant g.38655522G>A (NM_001160161.1: c.647C>T, p.S216L) in a female proband of 14 y.o. with QT interval prolongation on ECG. This variant was also found in proband’s mother with normal ECG. This variant was evaluated according to ACMG criteria. BS1: Allele frequency is greater than expected for disorder; BS4: Lack of segregation in affected members of a family. Furthermore, noncanonical transcripts of exon 6 of the SCN5A gene containing this variant are poorly represented in cardiac tissue (gnomAD). Based on this evidences the g.38655522G>A (NM_001160161.1: c.647C>T, p.S216L variant is classified as Benign.

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