ClinVar Miner

Submissions for variant NM_000237.3(LPL):c.1128C>T (p.Ile376=)

gnomAD frequency: 0.00140  dbSNP: rs299
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000922527 SCV001067961 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002320093 SCV002608899 likely benign Cardiovascular phenotype 2021-03-30 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330997 SCV004039156 likely benign not specified 2023-08-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003903012 SCV004725741 likely benign LPL-related disorder 2019-10-28 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. RCV001832083 SCV002083226 likely benign Hyperlipoproteinemia, type I 2019-10-25 no assertion criteria provided clinical testing

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