ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.2437-7T>C

dbSNP: rs1012068196
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000678979 SCV000805195 uncertain significance Long QT syndrome 3 2018-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001692259 SCV001912000 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001692259 SCV002468362 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Roden Lab, Vanderbilt University Medical Center RCV004698511 SCV005200411 likely benign Brugada syndrome 1 criteria provided, single submitter research We classified this variant using data from the calibrated functional assay 'ParSE-seq' (PMID: 37732247), population data, and in silico data within the ACMG v3 framework (PMID: 25741868)The SCN5A variant, 3-38586048-A-G was evaluated for association with the loss-of-function condition Brugada Syndrome.This Variant had an AF of 0 in gnomAD v3The in silico predictor SpliceAI scored the variant as 0; normal <0.2, likely damaging >0.5.Using the functional RNA-splicing assay, ParSE-seq, the variant was evaluated to have no impact on splicing (BS3_strong) following the Brnich et al. calibration framework (PMID: 31892348). We do not apply benign splicing functional data to missense variants. In aggregate, we therefore classify this variant as LB using these collective data.

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