ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.423C>T (p.Ile141=)

gnomAD frequency: 0.00001  dbSNP: rs1381613896
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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 RCV001841068 SCV001356256 likely benign Cardiac arrhythmia 2019-08-12 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV001823763 SCV002073415 likely benign not specified 2022-01-17 criteria provided, single submitter clinical testing This synonymous variant has occurred in GnomAD with a total MAF of 0.0008% and with the highest MAF of 0.0018% in the European population. This position is not conserved. In silico splicing algorithm predicted no impact on splicing, but no functional studies were performed to confirm this prediction. This variant NM_000335.5(SCN5A):c.423C>T (p.Ile141=) is present in the ClinVar database (ID: 926464). The variant has not occurred in the literature in association with the disease. Considering that the variant has a relatively high frequency in a subpopulation, it has been classified as Likely Benign.

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