ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2022dup (p.Gly675fs)

dbSNP: rs2147265977
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001813913 SCV002061313 pathogenic Hypercholesterolemia, familial, 1 2021-12-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004998961 SCV005625830 pathogenic not provided 2024-05-03 criteria provided, single submitter clinical testing The LDLR c.2022dup (p.Gly675Trpfs*42) variant alters the translational reading frame of the LDLR mRNA and causes the premature termination of LDLR protein synthesis. This variant has been reported in the published literature in an individual affected with hypercholesterolemia (PMID: 27824480 (2017)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic.

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