ClinVar Miner

Submissions for variant NM_001371904.1(APOA5):c.111C>A (p.Asp37Glu)

gnomAD frequency: 0.01131  dbSNP: rs34282181
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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
GeneDx 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.

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