ClinVar Miner

Submissions for variant NM_000237.3(LPL):c.345A>C (p.Ser115=)

gnomAD frequency: 0.00088  dbSNP: rs147309575
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000893020 SCV001036933 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001160570 SCV001322384 uncertain significance Hyperlipoproteinemia, type I 2017-08-05 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.
Ambry Genetics RCV002454069 SCV002617949 likely benign Cardiovascular phenotype 2019-08-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323758 SCV004030105 likely benign not specified 2023-07-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000893020 SCV004164442 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing LPL: BP4, BP7
Natera, Inc. RCV001160570 SCV001454753 benign Hyperlipoproteinemia, type I 2020-04-14 no assertion criteria provided clinical testing

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