Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000238396 | SCV000294649 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Mayo Clinic Laboratories, |
RCV001508838 | SCV001715237 | pathogenic | not provided | 2019-09-08 | criteria provided, single submitter | clinical testing | PVS1, PM2 |
Labcorp Genetics |
RCV003581595 | SCV004298313 | pathogenic | Familial hypercholesterolemia | 2022-10-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 251169). This premature translational stop signal has been observed in individual(s) with familial hypercholesterolemia (PMID: 10208479). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp118Valfs*88) 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). |