ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.506T>C (p.Val169Ala)

gnomAD frequency: 0.00001  dbSNP: rs1487883672
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001945214 SCV002179539 uncertain significance Brugada syndrome 5 2022-10-16 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 0.006%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 169 of the SCN1B protein (p.Val169Ala). The SCN1B gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001037.5, and corresponds to NM_199037.3:c.*5076T>C in the primary transcript.
Ambry Genetics RCV002344026 SCV002645941 uncertain significance Cardiovascular phenotype 2020-02-21 criteria provided, single submitter clinical testing The p.V169A variant (also known as c.506T>C), located in coding exon 4 of the SCN1B gene, results from a T to C substitution at nucleotide position 506. The valine at codon 169 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well 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.

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