ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1486_1487del (p.Gly496fs)

dbSNP: rs869025454
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208323 SCV000264004 likely pathogenic Hypercholesterolemia, familial, 1 2015-03-11 criteria provided, single submitter clinical testing
LDLR-LOVD, British Heart Foundation RCV000208323 SCV000295463 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Invitae RCV001853308 SCV002242073 pathogenic Familial hypercholesterolemia 2023-04-12 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: 222689). This variant is also known as 1486delGG or the Surinam allele. This premature translational stop signal has been observed in individual(s) with familial hypercholesterolemia (PMID: 11810272). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly496Hisfs*39) 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).
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000208323 SCV000606442 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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