Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000705038 | SCV000834017 | likely benign | Long QT syndrome | 2024-01-05 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811454 | SCV002049896 | uncertain significance | not provided | 2021-01-12 | criteria provided, single submitter | clinical testing | The CACNA1C c.1477C>A; p.Leu493Met variant (rs376530064), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 581264). This variant is found in the general population with an overall allele frequency of 0.004% (11/257970 alleles) in the Genome Aggregation Database. The leucine at codon 493 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, given the lack of clinical and functional data, the significance of the p.Leu493Met variant is uncertain at this time. |
Ambry Genetics | RCV002388338 | SCV002699470 | benign | Cardiovascular phenotype | 2022-01-06 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |