Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000594308 | SCV000707875 | benign | not specified | 2017-04-14 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV001165478 | SCV001327674 | likely benign | Congenital generalized lipodystrophy type 1 | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
| Invitae | RCV002062081 | SCV002365189 | benign | not provided | 2023-12-11 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000594308 | SCV002548412 | benign | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing | Variant summary: AGPAT2 c.716C>T (p.Ala239Val) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00084 in 233002 control chromosomes, predominantly at a frequency of 0.012 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 14-fold of the estimated maximal expected allele frequency for a pathogenic variant in AGPAT2 causing Congenital Generalized Lipodystrophy phenotype (0.00087), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. c.716C>T has been reported in the literature in an individual affected with Congenital Generalized Lipodystrophy (Agarwal_2002). This report does not provide unequivocal conclusions about association of the variant with Congenital Generalized Lipodystrophy. Experimental evidence evaluating an impact on protein function demonstrated the variant to confer 90% of the wild type enzymatic activity (Haque_2005). Three ClinVar submitters (evaluation after 2014) cite the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign. |