ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.508T>G (p.Leu170Val)

dbSNP: rs748491132
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521558 SCV000617063 uncertain significance not provided 2022-03-15 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002341218 SCV002642954 uncertain significance Cardiovascular phenotype 2020-08-18 criteria provided, single submitter clinical testing The p.L170V variant (also known as c.508T>G), located in coding exon 4 of the SCN1B gene, results from a T to G substitution at nucleotide position 508. The leucine at codon 170 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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 RCV002527568 SCV003480462 uncertain significance Brugada syndrome 5 2022-03-13 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 170 of the SCN1B protein (p.Leu170Val). The SCN1B gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001037.4, and corresponds to NM_199037.3:c.*5078T>G in the primary transcript.

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