ClinVar Miner

Submissions for variant NM_005357.4(LIPE):c.3040G>A (p.Val1014Met)

gnomAD frequency: 0.00027  dbSNP: rs193061079
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435930 SCV000536665 uncertain significance not provided 2017-02-06 criteria provided, single submitter clinical testing The V1014M variant in the LIPE gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is observed in 4/246 (1.63%) alleles from individuals of Latino background, in the ExAC dataset (Lek et al., 2016). The V1014M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V1014M as a variant of uncertain significance.
Baylor Genetics RCV001330054 SCV001521645 uncertain significance LIPE-related familial partial lipodystrophy 2019-08-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Breakthrough Genomics, Breakthrough Genomics RCV000435930 SCV005194660 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003942463 SCV004760217 likely benign LIPE-related disorder 2020-08-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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