Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001842786 | SCV001344262 | uncertain significance | Cardiac arrhythmia | 2022-11-09 | criteria provided, single submitter | clinical testing | This missense variant replaces alanine with threonine at codon 166 of the SCN5A protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). A functional study has shown that the variant did not alter electrophysiological properties (PMID: 32533946). This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 70/280216 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Invitae | RCV001572069 | SCV001650861 | likely benign | not provided | 2023-10-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001572069 | SCV001796649 | likely benign | not provided | 2018-12-24 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 32533946, 27650965) |
Ambry Genetics | RCV003163408 | SCV003903744 | likely benign | Cardiovascular phenotype | 2023-01-10 | 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. |