Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre de Génétique Moléculaire et Chromosomique, |
RCV000417289 | SCV000503141 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subject mutated among 2600 FH index cases screened = 1 |
Labcorp Genetics |
RCV002521502 | SCV003442663 | pathogenic | Familial hypercholesterolemia | 2022-02-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys109*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 375781). This premature translational stop signal has been observed in individual(s) with clinical features of LDLR-related conditions (PMID: 27932355). This variant is not present in population databases (gnomAD no frequency). |