ClinVar Miner

Submissions for variant NM_199037.3(SCN1B):c.751G>A (p.Val251Ile)

gnomAD frequency: 0.00001  dbSNP: rs193922728
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001841546 SCV000053105 likely pathogenic Cardiac arrhythmia 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454426 SCV000540268 uncertain significance not specified 2016-10-20 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ClinVar: LP by LabCorp, who report the variant in 1 individual with arrhythmia. No additional reports. Only a coding change on alternative transcript - Falls within poorly conserved region of the gene
Invitae RCV001372438 SCV001569095 uncertain significance Brugada syndrome 5 2020-06-08 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SCN1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 36757). This variant is present in population databases (rs193922728, ExAC 0.01%). This sequence change replaces valine with isoleucine at codon 251 of the SCN1B protein (p.Val251Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine.
GeneDx RCV000996832 SCV001803987 uncertain significance not provided 2019-11-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

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