ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.544C>T (p.Gln182Ter)

gnomAD frequency: 0.00001  dbSNP: rs879254570
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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 RCV000237840 SCV000294786 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV003581603 SCV004298324 pathogenic Familial hypercholesterolemia 2022-11-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 251292). This variant is also known as Q161X. This premature translational stop signal has been observed in individual(s) with familial hypercholesterolemia (PMID: 10782930). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln182*) 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).

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