ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.584A>C (p.Glu195Ala)

dbSNP: rs2151748815
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002223410 SCV002501736 uncertain significance not provided 2021-07-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496151 SCV002785946 uncertain significance Generalized epilepsy with febrile seizures plus, type 1; Brugada syndrome 5; Atrial fibrillation, familial, 13; Developmental and epileptic encephalopathy, 52 2021-08-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003093871 SCV003243138 uncertain significance Brugada syndrome 5 2022-08-21 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 not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 195 of the SCN1B protein (p.Glu195Ala). The SCN1B gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001037.4, and corresponds to NM_199037.3:c.*5154A>C in the primary transcript.
Ambry Genetics RCV004982943 SCV005500012 uncertain significance Cardiovascular phenotype 2024-10-07 criteria provided, single submitter clinical testing The p.E195A variant (also known as c.584A>C), located in coding exon 4 of the SCN1B gene, results from an A to C substitution at nucleotide position 584. The glutamic acid at codon 195 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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