ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+337G>T

dbSNP: rs369032304
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001201877 SCV001372968 uncertain significance Brugada syndrome 5 2023-05-30 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 933627). 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 0.01%). This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 262 of the SCN1B protein (p.Cys262Phe). 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003479289 SCV004223318 uncertain significance not specified 2023-11-03 criteria provided, single submitter clinical testing Variant summary: SCN1B c.785G>T (p.Cys262Phe) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 3.2e-05 in 154118 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.785G>T in individuals affected with SCN1B-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited a clinical-significance assessment for this variant to ClinVar after 2014 and has classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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