Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237298 | SCV000295062 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000237298 | SCV000503257 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subjects mutated among 2600 FH index cases screened = 4 , family members = 2 with co-segregation / p.Lys311Arg, p.Cys313Trp systematicaly associated (Van Leuven et al. Atherosclerosis 2001) / Software predictions: Conflicting |
U4M - |
RCV000237298 | SCV000583763 | pathogenic | Hypercholesterolemia, familial, 1 | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000775682 | SCV000910089 | pathogenic | Familial hypercholesterolemia | 2018-07-22 | criteria provided, single submitter | clinical testing | Pathogenic variant based on current evidence: This variant deletes two nucleotides in exon 6 of the LDLR gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional assays have not been performed for this variant. This variant has been reported in individuals affected with familial hypercholesterolemia (PMID: 9259195, 9727746). This variant is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Truncating variants in the LDLR gene are known to be pathogenic (PMID: 20809525). Based on available evidence, this variant is classified as Pathogenic. |
Mendelics | RCV000237298 | SCV001140983 | pathogenic | Hypercholesterolemia, familial, 1 | 2019-05-28 | criteria provided, single submitter | clinical testing |