ClinVar Miner

Submissions for variant NM_000237.3(LPL):c.1136C>T (p.Thr379Ile)

gnomAD frequency: 0.00133  dbSNP: rs76708715
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Total submissions: 7
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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 RCV000589644 SCV000696006 likely benign not provided 2017-06-08 criteria provided, single submitter clinical testing Variant summary: The LPL c.1136C>T (p.Thr379Ile) variant involves the alteration of a non-conserved nucleotide. 3/5 in silico tools predict a benign outcome for this variant. This variant was found in 232/121442 control chromosomes (1 homozygote) from ExAC, relatively more commonly observed in the European (Finnish) subpopulation at a frequency of 0.006408 (42/6554). This frequency in European (Finnish) is about 2 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 European (Finnish) origin. The variant was identified in at least 1 patient with hypertriglyceridemia without strong evidence for pathogenicity (Surendran_2012). Taken together, this variant is classified as Likely Benign.
Invitae RCV000589644 SCV001110611 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001164214 SCV001326327 uncertain significance Hyperlipoproteinemia, type I 2017-04-27 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV000589644 SCV001898001 benign not provided 2021-06-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27055971, 8843465)
Ambry Genetics RCV002448819 SCV002612540 likely benign Cardiovascular phenotype 2022-08-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003905506 SCV004723347 likely benign LPL-related disorder 2020-10-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001164214 SCV002083228 likely benign Hyperlipoproteinemia, type I 2020-01-23 no assertion criteria provided clinical testing

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