ClinVar Miner

Submissions for variant NM_005357.4(LIPE):c.2461C>T (p.Arg821Cys)

gnomAD frequency: 0.00021  dbSNP: rs370955937
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003131484 SCV003814669 uncertain significance LIPE-related familial partial lipodystrophy 2022-05-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003410269 SCV004114448 uncertain significance LIPE-related disorder 2023-08-05 criteria provided, single submitter clinical testing The LIPE c.2461C>T variant is predicted to result in the amino acid substitution p.Arg821Cys. This variant was reported as a variant of uncertain significance in one large cohort study of dyslipidemias (Table S4, Dron et al 2020. PubMed ID: 32041611). This variant is reported in 0.035% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-42909618-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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