ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.905del (p.Cys302fs)

dbSNP: rs1057516130
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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 RCV000408896 SCV000484803 likely pathogenic Hypercholesterolemia, familial, 1 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001850943 SCV002236918 pathogenic Familial hypercholesterolemia 2021-11-17 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 369867). This sequence change creates a premature translational stop signal (p.Cys302Serfs*68) in the LDLR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hypercholesterolemia (PMID: 27765764). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000408896 SCV003830896 likely pathogenic Hypercholesterolemia, familial, 1 2022-02-22 criteria provided, single submitter clinical testing

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