ClinVar Miner

Submissions for variant NM_005357.4(LIPE):c.998G>A (p.Arg333Gln)

gnomAD frequency: 0.00044  dbSNP: rs112497256
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443006 SCV000536666 uncertain significance not provided 2017-02-06 criteria provided, single submitter clinical testing The R333Q 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 67/16144 (0.42%) alleles from individuals of South Asian background, in the ExAC dataset (Lek et al., 2016). The R333Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some 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 R333Q as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000443006 SCV001023390 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821211 SCV002065966 uncertain significance not specified 2017-06-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902627 SCV004725826 likely benign LIPE-related disorder 2023-11-09 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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