Submissions for variant NM_000527.5(LDLR):c.1326C>G (p.Tyr442Ter)

dbSNP: rs879254865

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
LDLR-LOVD, British Heart Foundation	RCV000237269	SCV000295367	pathogenic	Hypercholesterolemia, familial, 1	2016-03-25	criteria provided, single submitter	literature only
Fundacion Hipercolesterolemia Familiar	RCV000237269	SCV000607585	pathogenic	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research
Labcorp Genetics (formerly Invitae), Labcorp	RCV001220026	SCV001391997	pathogenic	Familial hypercholesterolemia	2022-05-14	criteria provided, single submitter	clinical testing	This premature translational stop signal has been observed in individual(s) with familial hypercholesterolemia (PMID: 15241806). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 251788). This variant is also known as p.Y421X. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr442*) 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).
CeGaT Center for Human Genetics Tuebingen	RCV004567794	SCV005051200	pathogenic	not provided	2024-05-01	criteria provided, single submitter	clinical testing	LDLR: PVS1, PM2, PS4:Moderate