Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000238410 | SCV000295170 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000238410 | SCV000503289 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subject mutated among 2600 FH index cases screened = 1 |
Invitae | RCV001854898 | SCV002240773 | pathogenic | Familial hypercholesterolemia | 2022-03-27 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with familial hypercholesterolemia (PMID: 9654205). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 251621). This variant is also known as C331X. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys352*) 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). |