ClinVar Miner

Submissions for variant NM_006412.4(AGPAT2):c.640A>G (p.Lys214Glu)

gnomAD frequency: 0.00085  dbSNP: rs142248792
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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 RCV000445463 SCV000537069 uncertain significance Monogenic diabetes 2015-10-16 criteria provided, single submitter research ACMG Criteria: PP3, BP4
Invitae RCV000909273 SCV001054070 likely benign not provided 2023-02-14 criteria provided, single submitter clinical testing
New York Genome Center RCV002467799 SCV002764590 uncertain significance Congenital generalized lipodystrophy type 1 2021-04-09 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002467799 SCV004698162 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 rs142248792 in Congenital generalized lipodystrophy is yet to be ascertained.

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