ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.85G>A (p.Glu29Lys)

gnomAD frequency: 0.00001  dbSNP: rs767384862
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000789049 SCV000928323 uncertain significance Childhood absence epilepsy 2019-07-18 criteria provided, single submitter clinical testing
Invitae RCV001222654 SCV001394765 uncertain significance Brugada syndrome 5 2019-06-07 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 29 of the SCN1B protein (p.Glu29Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs767384862, ExAC 0.009%). This variant has not been reported in the literature in individuals with SCN1B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV004027377 SCV003759543 uncertain significance Cardiovascular phenotype 2021-12-12 criteria provided, single submitter clinical testing The c.85G>A (p.E29K) alteration is located in exon 2 (coding exon 2) of the SCN1B gene. This alteration results from a G to A substitution at nucleotide position 85, causing the glutamic acid (E) at amino acid position 29 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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