Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
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 | |
Invitae | RCV001220026 | SCV001391997 | pathogenic | Familial hypercholesterolemia | 2022-05-14 | criteria provided, single submitter | clinical testing | 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). 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: 15241806). This variant is also known as p.Y421X. ClinVar contains an entry for this variant (Variation ID: 251788). For these reasons, this variant has been classified as Pathogenic. |