ClinVar Miner

Submissions for variant NM_000237.3(LPL):c.1135A>G (p.Thr379Ala) (rs300)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588862 SCV000696005 likely benign not provided 2017-06-08 criteria provided, single submitter clinical testing Variant summary: The LPL c.1135A>G (p.Thr379Ala) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 132/121692 control chromosomes (2 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.01235 (128/10364). This frequency is about 4 times the estimated maximal expected allele frequency of a pathogenic LPL variant (0.0033541), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. This variant was also found in a familial combined hyperlipidemia patient who also carried p.Val397Met without information of phase of the variants (Minicocci_2015); however no cosegregation study was performed and thus it was unknown whether this variant had any role on the disease. Taken together, based on its allele frequency in Africans and in-silico prediction consistent with benign outcome, this variant is classified as Likely Benign.
Invitae RCV000588862 SCV001115553 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001164213 SCV001326326 benign Hyperlipoproteinemia, type I 2017-10-13 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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