ClinVar Miner

Submissions for variant NM_006514.3(SCN10A):c.365C>T (p.Thr122Met) (rs142884499)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229954 SCV000289556 likely benign Brugada syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000521403 SCV000618885 uncertain significance not specified 2017-07-10 criteria provided, single submitter clinical testing The T122M variant has not been published as pathogenic or been reported as benign to our knowledge. The T122M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species, and in silico analysis predicts this variant likely does not alter the protein structure/function. Furthermore, the T122M variant has been observed in 0.069%-0.2% of alleles from individuals of East Asian ancestry in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000786213 SCV000924936 uncertain significance not provided 2016-02-19 no assertion criteria provided provider interpretation

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