ClinVar Miner

Submissions for variant NM_006412.4(AGPAT2):c.299G>A (p.Ser100Asn)

gnomAD frequency: 0.00001  dbSNP: rs764260414
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile RCV000412496 SCV000902517 pathogenic Congenital generalized lipodystrophy type 1 2013-03-04 criteria provided, single submitter research Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by extreme reduction of white adipose tissue (WAT) mass. CGL type 1 is the most frequent form and is caused by mutations in AGPAT2. Genetic and clinical studies were performed in two affected sisters of a Chilean family. These patients have notoriously dissimilar metabolic abnormalities that correlate with differential levels of circulating leptin and soluble leptin receptor fraction. Sequencing of AGPAT2 exons and exon-intron boundaries revealed two homozygous mutations in both sisters. Missense mutation c.299G>A changes a conserved serine in the acyltransferase NHX4D motif of AGPAT2 (p.Ser100Asn). In silico protein modeling provided insights of the mechanisms of lack of catalytic activity owing to both mutations.
GeneReviews RCV000412496 SCV000490116 not provided Congenital generalized lipodystrophy type 1 no assertion provided literature only

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