ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.553G>A (p.Ala185Thr)

gnomAD frequency: 0.00049  dbSNP: rs192113333
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987239 SCV001136489 benign Brugada syndrome 1 2023-08-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001842387 SCV001356095 likely benign Cardiac arrhythmia 2018-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005055561 SCV002482014 benign not provided 2024-10-23 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust RCV000058790 SCV000090310 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported as associated with Long QT syndrome in the following publications (PMID:15176425). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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