ClinVar Miner

Submissions for variant NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter) (rs138994150)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000412630 SCV000478807 uncertain significance Congenital generalized lipodystrophy type 1 2017-04-27 criteria provided, single submitter clinical testing The AGPAT2 c.646A>T (p.Lys216Ter) variant is a stop-gained variant that is predicted to cause premature truncation of the protein. This variant has been reported in two studies in which it is found in a total of two individuals with Berardinelli-Seip congenital lipodystrophy, both of whom were homozygous for the variant (Marge et al. 2003; Akinci et al. 2016). Control data are unavailable for this variant, which is reported at a frequency of 0.00454 in the African population of the 1000 Genomes Project. Due to the potential impact of stop-gained variants and the limited evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for Berardinelli-Seip congenital lipodystrophy. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV000880987 SCV001024123 likely benign not provided 2018-10-19 criteria provided, single submitter clinical testing
GeneReviews RCV000412630 SCV000490124 pathogenic Congenital generalized lipodystrophy type 1 2016-12-08 no assertion criteria provided literature only

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