ClinVar Miner

Submissions for variant NM_000237.3(LPL):c.1136C>T (p.Thr379Ile) (rs76708715)

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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 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 2020-12-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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.

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