Submissions for variant NM_000237.3(LPL):c.929G>A (p.Cys310Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1409123950

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	RCV001537868	SCV001754802	likely pathogenic	Hyperlipidemia, familial combined, LPL related	2020-06-11	criteria provided, single submitter	clinical testing	The c.929G>A (p.Cys310Tyr) variant (also known as Cys283Tyr, rs1409123950) in the LPL gene has been reported in a proband with hypertriglyceridemia (PMID: 12204001). This variant is present at very low frequency in 2/251336 alleles in the gnomAD population database and is predicted to be deleterious by multiple bioinformatics algorithms. In vitro expression study showed decreased catalytic activity resulting from this variant (PMID: 12204001). At the same residue, c. 928T>C (p.Cys310Arg) is reported in patients with severe hypertriglyceridemia and recurrent pancreatitis (PMID: 28548960). This variant was identified in an adult male with severe hypertriglyceridemia in our clinic. Therefore, the c.929G>A (p.Cys310Tyr) variant in the LPL gene is classified as likely pathogenic.
GBinsight Genetic Testing by GB HealthWatch, Genben Lifesciences Corporation	RCV001257912	SCV001329891	pathogenic	Hyperlipoproteinemia, type I	2020-05-27	no assertion criteria provided	clinical testing