ClinVar Miner

Submissions for variant NM_005357.4(LIPE):c.2152C>T (p.Arg718Ter)

gnomAD frequency: 0.00001  dbSNP: rs1361929051
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329399 SCV001520835 likely pathogenic LIPE-related familial partial lipodystrophy 2019-07-31 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001329399 SCV004806992 likely pathogenic LIPE-related familial partial lipodystrophy 2024-03-26 criteria provided, single submitter clinical testing

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