Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586242 | SCV000699782 | likely benign | not provided | 2017-07-21 | criteria provided, single submitter | clinical testing | Variant summary: The APOA5 c.111C>A (p.Asp37Glu) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 377/95056 control chromosomes (7 homozygotes) including ExAC, predominantly observed in the African subpopulation at a frequency of 0.042891 (330/7694). This frequency is about 643 times the estimated maximal expected allele frequency of a pathogenic APOA5 variant (0.0000667), thus this is a polymorphism found primarily in the populations of African origin. A case-control study indicates that the variants prevalence is increased in myocardial infarction cases than in controls (Do_2015). No further studies are found to replicate this finding. Taken together, this variant is currently classified as likely benign. |
Invitae | RCV000586242 | SCV001024698 | benign | not provided | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000586242 | SCV001826392 | likely benign | not provided | 2021-04-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002438530 | SCV002751267 | benign | Cardiovascular phenotype | 2021-02-05 | 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. |