Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000238054 | SCV000295215 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Ambry Genetics | RCV004020960 | SCV005035872 | pathogenic | Cardiovascular phenotype | 2023-10-31 | criteria provided, single submitter | clinical testing | The p.Q366* pathogenic mutation (also known as c.1096C>T), located in coding exon 8 of the LDLR gene, results from a C to T substitution at nucleotide position 1096. This changes the amino acid from a glutamine to a stop codon within coding exon 8. This mutation (referred to as Q345stop) has been detected in a familial hypercholesterolemia cohort (Widhalm K et al. J Inherit Metab Dis, 2007 Apr;30:239-47). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. |