ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.138C>A (p.Cys46Ter)

dbSNP: rs754676104
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237307 SCV000294481 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV005090200 SCV005838771 pathogenic Familial hypercholesterolemia 2024-07-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys46*) 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 familial hypercholesterolemia (PMID: 16806138, 32759540). This variant is also known as p.C25X or p.Cys46Term. ClinVar contains an entry for this variant (Variation ID: 251032). For these reasons, this variant has been classified as Pathogenic.

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