Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780700 | SCV000918187 | benign | not specified | 2018-08-14 | criteria provided, single submitter | clinical testing | Variant summary: SCN1B c.615C>G alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The observed variant frequency within South Asian control individuals in the gnomAD database is approximately 64-fold above the estimated maximal expected allele frequency for a pathogenic variant in SCN1B causing Arrhythmia phenotype (1e-05), strongly suggesting that the variant is a benign polymorphism found primarily in populations of South Asian origin. To our knowledge, no occurrence of c.615C>G in individuals affected with Arrhythmia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign. |
Invitae | RCV001438488 | SCV001641362 | likely benign | Brugada syndrome 5 | 2023-06-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001637986 | SCV001851269 | likely benign | not provided | 2018-11-16 | criteria provided, single submitter | clinical testing |