ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.349A>C (p.Asn117His)

gnomAD frequency: 0.00004  dbSNP: rs774462243
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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 RCV001364144 SCV001560278 likely benign Brugada syndrome 2023-07-31 criteria provided, single submitter clinical testing
GeneDx RCV003319468 SCV004023894 uncertain significance not provided 2023-02-06 criteria provided, single submitter clinical testing Identified in a patient with primary fibrotic atrial cardiomyopathy (PF-ACM) (Zhu et al., 2022); this patient harbored an additional cardiogenetic variant; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 35063694)
Ambry Genetics RCV004036903 SCV005025344 benign Cardiovascular phenotype 2024-01-11 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.

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