Submissions for variant NM_000527.5(LDLR):c.1954_1955del (p.Met652fs)

dbSNP: rs875989935

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
LDLR-LOVD, British Heart Foundation	RCV000211682	SCV000295772	pathogenic	Hypercholesterolemia, familial, 1	2016-03-25	criteria provided, single submitter	literature only
Labcorp Genetics (formerly Invitae), Labcorp	RCV002229200	SCV000544699	pathogenic	Familial hypercholesterolemia	2024-09-12	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Met652Glyfs*16) 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 present in population databases (rs761230085, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with hypercholesterolemia (PMID: 17087781). This variant is also known as 1953delTA. ClinVar contains an entry for this variant (Variation ID: 226381). For these reasons, this variant has been classified as Pathogenic.
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital	RCV000211682	SCV000268650	pathogenic	Hypercholesterolemia, familial, 1	2009-03-19	no assertion criteria provided	clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	RCV000211682	SCV000606561	pathogenic	Hypercholesterolemia, familial, 1		no assertion criteria provided	research