Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237928 | SCV000294420 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000237928 | SCV000503093 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subject mutated among 2600 FH index cases screened = 1 |
U4M - |
RCV000237928 | SCV000583624 | pathogenic | Hypercholesterolemia, familial, 1 | 2017-03-30 | criteria provided, single submitter | clinical testing | ACMG Guidelines: Likely Pathogenic (ii) |
Ambry Genetics | RCV002327169 | SCV002627292 | pathogenic | Cardiovascular phenotype | 2019-01-28 | criteria provided, single submitter | clinical testing | The c.41dupT pathogenic mutation, located in coding exon 1 of the LDLR gene, results from a duplication of T at nucleotide position 41, causing a translational frameshift with a predicted alternate stop codon (p.L14Ffs*38). This alteration (referred to as 41-42insT) has been reported in the homozygous state in a pediatric case with familial hypercholesterolemia demonstrating xanthoma, corneal arcus, and premature coronary heart disease (Sözen MM et al. Atherosclerosis. 2005 May;180:63-71). 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. |