Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000211675 | SCV000294557 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000211675 | SCV000503119 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subject mutated among 2600 FH index cases screened = 1 , family members = 4 with co-segregation |
New York Genome Center | RCV000211675 | SCV002764563 | pathogenic | Hypercholesterolemia, familial, 1 | 2021-01-20 | criteria provided, single submitter | clinical testing | The heterozygous c.253C>T(p.Gln85Ter) variant identified in exon 3/18 of the LDLR gene creates a premature translation termination codon and is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The p.Gln85Ter variant has been reported in affected individuals in the literature (PMIDs:7489239, 20145306). The variant is reported in ClinVar as Pathogenic by three independent sources [VarID:226311]. The c.253C>T(p.Gln85Ter) variant is absent from the gnomAD database indicating it is an extremely rare allele in the populations represented in that database. Based on the available evidence, the c.253C>T(p.Gln85Ter)variant identified in the LDLR gene is reported as Pathogenic. |
Juno Genomics, |
RCV000211675 | SCV005417518 | pathogenic | Hypercholesterolemia, familial, 1 | criteria provided, single submitter | clinical testing | PVS1+PM2_Supporting+PS4_Supporting | |
Cardiovascular Genetics Laboratory, |
RCV000211675 | SCV000268546 | pathogenic | Hypercholesterolemia, familial, 1 | 2015-08-20 | no assertion criteria provided | clinical testing |