ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.23T>C (p.Val8Ala)

gnomAD frequency: 0.00003  dbSNP: rs786205833
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004786487 SCV000223612 uncertain significance not provided 2024-11-11 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV000692873 SCV000820720 uncertain significance Brugada syndrome 5 2023-09-24 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. ClinVar contains an entry for this variant (Variation ID: 190868). This missense change has been observed in individual(s) with SCN1B-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 8 of the SCN1B protein (p.Val8Ala).
Ambry Genetics RCV003165347 SCV003902283 uncertain significance Cardiovascular phenotype 2022-12-11 criteria provided, single submitter clinical testing The p.V8A variant (also known as c.23T>C), located in coding exon 1 of the SCN1B gene, results from a T to C substitution at nucleotide position 23. The valine at codon 8 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. 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.

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