ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.585G>A (p.Glu195=)

gnomAD frequency: 0.00002  dbSNP: rs753271148
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604087 SCV000718250 likely benign not specified 2017-04-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002358685 SCV002647671 likely benign Cardiovascular phenotype 2021-11-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV003621556 SCV004511935 uncertain significance Brugada syndrome 5 2023-06-14 criteria provided, single submitter clinical testing The SCN1B gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001037.4, and corresponds to NM_199037.3:c.*5155G>A in the primary transcript. 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 effect of this variant on mRNA splicing 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 (rs753271148, gnomAD 0.004%). This sequence change affects codon 195 of the SCN1B mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SCN1B protein.

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