ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+40G>A

gnomAD frequency: 0.00011  dbSNP: rs199685662
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000463174 SCV000545171 uncertain significance Brugada syndrome 5 2024-10-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 163 of the SCN1B protein (p.Arg163Gln). This variant is present in population databases (rs199685662, gnomAD 0.02%). 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: 406499). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
CeGaT Center for Human Genetics Tuebingen RCV000996830 SCV001151766 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000996830 SCV001767704 uncertain significance not provided 2024-07-07 criteria provided, single submitter clinical testing Reported in two siblings with a history of intractable epilepsy, hypotonia, global developmental delay, gastroesophageal reflux disease, and minor dysmorphic features; however, the variant was inherited from an unaffected father and additional compound heterozygous variants in the PIGN gene were identified that were expected to explain the familial phenotype (PMID: 26394714); In silico analysis indicates that this missense variant does not alter protein structure/function; Reported using an alternate transcript of the gene; This variant is associated with the following publications: (PMID: 26394714)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000996830 SCV002048093 uncertain significance not provided 2021-08-20 criteria provided, single submitter clinical testing

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