Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237144 | SCV000295245 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000237144 | SCV000503304 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subject mutated among 2600 FH index cases screened = 1 |
U4M - |
RCV000237144 | SCV000583795 | pathogenic | Hypercholesterolemia, familial, 1 | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002519845 | SCV003443102 | pathogenic | Familial hypercholesterolemia | 2022-04-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln384*) 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: 19843101, 33740630). ClinVar contains an entry for this variant (Variation ID: 251688). For these reasons, this variant has been classified as Pathogenic. |