ClinVar Miner

Submissions for variant NM_000483.5(APOC2):c.178G>A (p.Glu60Lys)

gnomAD frequency: 0.00229  dbSNP: rs5122
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001513190 SCV001720757 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
GeneDx RCV001513190 SCV001765212 likely benign not provided 2019-07-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 8490626, 31589614, 29100061)
Ambry Genetics RCV002399306 SCV002714437 likely benign Cardiovascular phenotype 2019-07-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
OMIM RCV000002698 SCV000022856 pathogenic APOLIPOPROTEIN C-II (SAN FRANCISCO) 1993-01-01 no assertion criteria provided literature only
Reproductive Health Research and Development, BGI Genomics RCV000991187 SCV001142490 uncertain significance Familial apolipoprotein C-II deficiency 2020-01-06 no assertion criteria provided curation NM_000483.4:c.178G>A in the APOC2 gene has an allele frequency of 0.007 in African subpopulation in the gnomAD database. The p.Glu60Lys (NM_000483.4:c.178G>A) was reported as Glu38Lys andd apoc-IIsf in a paper published in 1993 (PMID: 8490626), which is verified by NCBI staff. This variant has been reported in patients with hyperlipidemic. However, functional studies showed no change in enzyme activity to activate lipoprotein lipase; and apoc-IIsf had no difference in the activation energy of the enzyme compared to the normal apoc-II (PubMed: 8490626). Taken together, we interprete this variant as variant of uncertain significance (VUS). ACMG/AMP Criteria applied: BS3; PP4.

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