ClinVar Miner

Submissions for variant NM_004176.5(SREBF1):c.332C>T (p.Pro111Leu)

gnomAD frequency: 0.00070  dbSNP: rs115855236
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002246850 SCV002516677 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710439 SCV005248539 benign not provided criteria provided, single submitter not provided
GeneDx RCV004710439 SCV005685652 uncertain significance not provided 2024-07-16 criteria provided, single submitter clinical testing Published functional studies suggest a damaging effect as in vitro experiments show that p.(P111L) significantly affects insulin-mediated SREBF1 phosphorylation, and the transcription and expression of genes involved in lipid metabolism (PMID: 21645898); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in a family with severe combined hypolipidemia, but it is unknown whether the family members were tested for variants in other genes associated with hypolipidemia (PMID: 21645898); This variant is associated with the following publications: (PMID: 34426522, 34829957, 21645898)

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