ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.69G>C (p.Glu23Asp)

gnomAD frequency: 0.00001  dbSNP: rs762553865
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622208 SCV000738170 uncertain significance Cardiovascular phenotype 2017-09-22 criteria provided, single submitter clinical testing The p.E23D variant (also known as c.69G>C), located in coding exon 2 of the SCN1B gene, results from a G to C substitution at nucleotide position 69. The glutamic acid at codon 23 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003621563 SCV004525328 uncertain significance Brugada syndrome 5 2023-12-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 23 of the SCN1B protein (p.Glu23Asp). This variant is present in population databases (rs762553865, gnomAD 0.0009%). 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: 519511). 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.
PreventionGenetics, part of Exact Sciences RCV004533279 SCV004763523 uncertain significance SCN1B-related disorder 2024-02-01 no assertion criteria provided clinical testing The SCN1B c.69G>C variant is predicted to result in the amino acid substitution p.Glu23Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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