ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.261_262delinsAG (p.Trp87_Arg88delinsTer)

dbSNP: rs879254453
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237753 SCV000294562 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Fundacion Hipercolesterolemia Familiar RCV000237753 SCV000607435 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001386877 SCV001587272 pathogenic Familial hypercholesterolemia 2020-08-20 criteria provided, single submitter clinical testing Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 20452591). This variant is also known as c.261_262invGA. ClinVar contains an entry for this variant (Variation ID: 251099). The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This sequence change creates a premature translational stop signal (p.Trp87*) in the LDLR gene. It is expected to result in an absent or disrupted protein product.

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