ClinVar Miner

Submissions for variant NM_005357.4(LIPE):c.3212G>C (p.Gly1071Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004771717 SCV005382422 uncertain significance LIPE-related familial partial lipodystrophy 2023-05-20 criteria provided, single submitter clinical testing The observed missense c.3212G>C (p.Gly1071Ala) variant in LIPE gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Gly1071Ala variant is present with allele frequency of 0.001% in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidence (Polyphen - Benign, SIFT - Tolerated and MutationTaster - Polymorphism) predict no damaging effect on protein structure and function for this variant. The amino acid change p.Gly1071Ala in LIPE is predicted as conserved by PhyloP across 100 vertebrates. The amino acid Gly at position 1071 is changed to a Ala changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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