Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000238134 | SCV000294764 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000238134 | SCV000503173 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subjects mutated among 2600 FH index cases screened = 4 , family member = 1 with co-segregation |
U4M - |
RCV000238134 | SCV000583689 | pathogenic | Hypercholesterolemia, familial, 1 | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Fundacion Hipercolesterolemia Familiar | RCV000238134 | SCV000607468 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | research | |
Ambry Genetics | RCV002338787 | SCV002644165 | pathogenic | Cardiovascular phenotype | 2018-02-23 | criteria provided, single submitter | clinical testing | The c.518delG pathogenic mutation, located in coding exon 4 of the LDLR gene, results from a deletion of one nucleotide at nucleotide position 518, causing a translational frameshift with a predicted alternate stop codon (p.C173Sfs*33). This alteration has been reported in individuals with hypercholesterolemia (Cenarro A et al. Clin. Genet., 1996 Apr;49:180-5; Huijgen R et al. Eur. Heart J., 2012 Sep;33:2325-30). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000238134 | SCV000606144 | pathogenic | Hypercholesterolemia, familial, 1 | no assertion criteria provided | research |