ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.8G>T (p.Arg3Met)

dbSNP: rs2151745336
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756340 SCV001988591 uncertain significance not provided 2019-04-11 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002370274 SCV002684066 uncertain significance Cardiovascular phenotype 2022-10-27 criteria provided, single submitter clinical testing The p.R3M variant (also known as c.8G>T), located in coding exon 1 of the SCN1B gene, results from a G to T substitution at nucleotide position 8. The arginine at codon 3 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003771908 SCV004684763 uncertain significance Brugada syndrome 5 2024-01-31 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with methionine, which is neutral and non-polar, at codon 3 of the SCN1B protein (p.Arg3Met). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1302666). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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