ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1900C>T (p.Leu634Phe)

gnomAD frequency: 0.00002  dbSNP: rs1279368649
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute, Western University RCV000660719 SCV000782931 uncertain significance Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780384 SCV000917590 uncertain significance not specified 2018-10-08 criteria provided, single submitter clinical testing Variant summary: LDLR c.1900C>T (p.Leu634Phe) results in a non-conservative amino acid change located in the LDLR class B repeat of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 246268 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1900C>T in individuals affected with Early Onset Coronary Artery Disease and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV001835064 SCV002086857 uncertain significance Familial hypercholesterolemia 2020-12-15 no assertion criteria provided clinical testing

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