ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1045del (p.Gln349fs)

dbSNP: rs879254765
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238091 SCV000295158 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000238091 SCV000503286 likely pathogenic Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 3
Fundacion Hipercolesterolemia Familiar RCV000238091 SCV000607548 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003581614 SCV004298344 pathogenic Familial hypercholesterolemia 2023-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln349Serfs*21) 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: 10790219). ClinVar contains an entry for this variant (Variation ID: 251612). For these reasons, this variant has been classified as Pathogenic.

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