ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.268G>A (p.Val90Met)

gnomAD frequency: 0.00004  dbSNP: rs778461222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000295558 SCV000337199 uncertain significance not provided 2015-11-23 criteria provided, single submitter clinical testing
Invitae RCV000690213 SCV000817892 uncertain significance Brugada syndrome 5 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 90 of the SCN1B protein (p.Val90Met). This variant is present in population databases (rs778461222, gnomAD 0.003%). 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: 284541). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV002450811 SCV002739120 uncertain significance Cardiovascular phenotype 2022-07-14 criteria provided, single submitter clinical testing The p.V90M variant (also known as c.268G>A), located in coding exon 3 of the SCN1B gene, results from a G to A substitution at nucleotide position 268. The valine at codon 90 is replaced by methionine, an amino acid with highly 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.

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