ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.548AGA[1] (p.Lys184del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002351722 SCV002648673 uncertain significance Cardiovascular phenotype 2021-04-13 criteria provided, single submitter clinical testing The c.551_553delAGA variant (also known as p.K184del) is located in coding exon 4 of the SCN1B gene. This variant results from an in-frame AGA deletion at nucleotide positions 551 to 553. This results in the in-frame deletion of a lysine at codon 184. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003096777 SCV003462989 uncertain significance Brugada syndrome 5 2022-06-26 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 0.003%). This variant, c.551_553del, results in the deletion of 1 amino acid(s) of the SCN1B protein (p.Lys184del), but otherwise preserves the integrity of the reading frame. The SCN1B gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001037.5, and corresponds to NM_199037.3:c.*5121_*5123del in the primary transcript.

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