ClinVar Miner

Submissions for variant NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val)

gnomAD frequency: 0.00634  dbSNP: rs142417583
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445394 SCV000537068 uncertain significance Monogenic diabetes 2015-10-27 criteria provided, single submitter research ACMG Criteria: BS2 (type2diabetesgenetics.org), BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV000965123 SCV001112380 benign not provided 2023-12-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001169500 SCV001332203 benign Congenital generalized lipodystrophy type 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV001169500 SCV004698151 uncertain significance Congenital generalized lipodystrophy type 1 criteria provided, single submitter research Potent mutations in AGPAT2 gene are associated with Congenital generalized lipodystrophy, type 1, which can present with insulin resistance, fatty liver and diabetes. However, the role of this particular variant rs142417583 in Congenital generalized lipodystrophy is yet to be ascertained.

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