ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.1890G>A (p.Lys630=)

gnomAD frequency: 0.00005  dbSNP: rs764191883
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001200158 SCV001371047 likely benign not provided 2020-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002560271 SCV003454398 likely benign Brugada syndrome 2024-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163506 SCV003860562 uncertain significance Cardiovascular phenotype 2023-02-15 criteria provided, single submitter clinical testing The c.1890G>A variant (also known as p.K630K), located in coding exon 13 of the SCN10A gene, results from a G to A substitution at nucleotide position 1890. This nucleotide substitution does not change the lysine at codon 630. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
PreventionGenetics, part of Exact Sciences RCV004545120 SCV004776767 likely benign SCN10A-related disorder 2019-08-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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