ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.571A>C (p.Thr191Pro)

gnomAD frequency: 0.00001  dbSNP: rs765702440
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001949183 SCV002211391 uncertain significance Brugada syndrome 5 2021-04-28 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. This variant has not been reported in the literature in individuals with SCN1B-related conditions. This variant is present in population databases (rs765702440, ExAC 0.01%). This sequence change replaces threonine with proline at codon 191 of the SCN1B protein (p.Thr191Pro). The SCN1B gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001037.4, and corresponds to NM_199037.4:c.*5141A>C in the primary transcript.
Ambry Genetics RCV003375476 SCV004096811 uncertain significance Cardiovascular phenotype 2023-09-06 criteria provided, single submitter clinical testing The p.T191P variant (also known as c.571A>C), located in coding exon 4 of the SCN1B gene, results from an A to C substitution at nucleotide position 571. The threonine at codon 191 is replaced by proline, an amino acid with highly 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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