ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del) (rs879254826)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237319 SCV000295291 uncertain significance Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Fundacion Hipercolesterolemia Familiar RCV000237319 SCV000607572 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781507 SCV000919589 pathogenic Familial hypercholesterolemia 2018-12-11 criteria provided, single submitter clinical testing Variant summary: LDLR c.1199_1207delACCTCTTCT (p.Tyr400_Phe402del), also known as c.1197_1205del9, results in an in-frame deletion that is predicted to remove 3 amino acids from the encoded protein. The variant was absent in 276812 control chromosomes (gnomAD). The variant, c.1199_1207delACCTCTTCT, has been reported in the literature in multiple individuals affected with Familial Hypercholesterolemia, including one homozygote, and is one of the most common variants in the Spanish populations (Alonso_2008, Sanchez-Hernandez_2016). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have 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 pathogenic.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237319 SCV000606354 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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