ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.3692T>C (p.Ile1231Thr)

gnomAD frequency: 0.00008  dbSNP: rs147130891
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001071767 SCV001237088 likely benign Brugada syndrome 2024-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348490 SCV002621433 benign Cardiovascular phenotype 2021-04-07 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mayo Clinic Laboratories, Mayo Clinic RCV003480952 SCV004226082 uncertain significance not provided 2022-03-15 criteria provided, single submitter clinical testing BS2

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