Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237910 | SCV000294798 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Laboratory of Genetics and Molecular Cardiology, |
RCV000237910 | SCV000588508 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | research | |
Robarts Research Institute, |
RCV000237910 | SCV000782950 | pathogenic | Hypercholesterolemia, familial, 1 | 2018-01-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004639189 | SCV005136029 | pathogenic | Cardiovascular phenotype | 2024-03-27 | criteria provided, single submitter | clinical testing | The c.571C>T (p.Q191*) alteration, located in exon 4 (coding exon 4) of the LDLR gene, consists of a C to T substitution at nucleotide position 571. This changes the amino acid from a glutamine (Q) to a stop codon at amino acid position 191. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant was reported in multiple individuals with features consistent with familial hypercholesterolemia (Mak, 1998; Yang, 2007). Based on the available evidence, this alteration is classified as pathogenic. |