Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000518529 | SCV000615052 | uncertain significance | not specified | 2017-03-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000697998 | SCV000826636 | uncertain significance | Brugada syndrome 5 | 2023-12-09 | criteria provided, single submitter | clinical testing | The SCN1B gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001037.5, and corresponds to NM_199037.3:c.*5016C>A in the primary transcript. This sequence change falls in intron 3 of the SCN1B gene. It does not directly change the encoded amino acid sequence of the SCN1B protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs370937269, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing 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. |
Ce |
RCV001311511 | SCV001501706 | uncertain significance | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | SCN1B: PM2 |
Gene |
RCV001311511 | SCV001764021 | uncertain significance | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |
Ambry Genetics | RCV002329223 | SCV002635382 | likely benign | Cardiovascular phenotype | 2021-09-16 | 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. |