ClinVar Miner

Submissions for variant NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys) (rs748157664)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494007 SCV000582849 likely pathogenic not provided 2017-05-19 criteria provided, single submitter clinical testing The E172K variant in the AGPAT2 gene has been reported previously in the homozygous state in association with Berardinelli-Seip syndrome (Magré et al., 2003; Haghighi et al., 2012; Rostami et al., 2013). The E172K variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E172K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret E172K as a likely pathogenic variant.
GeneReviews RCV000412645 SCV000490121 pathogenic Congenital generalized lipodystrophy type 1 2016-12-08 no assertion criteria provided literature only

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