Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237875 | SCV000295688 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Ambry Genetics | RCV002411094 | SCV002711550 | likely pathogenic | Cardiovascular phenotype | 2019-09-09 | criteria provided, single submitter | clinical testing | The p.L611F variant (also known as c.1833G>T), located in coding exon 12 of the LDLR gene, results from a G to T substitution at nucleotide position 1833. The leucine at codon 611 is replaced by phenylalanine, an amino acid with highly similar properties. This variant (also reported as legacy p.L590F) and a close match p.L611F (c.1833G>C) have been detected in individuals with familial hypercholesterolemia (Heath KE et al. Eur. J. Hum. Genet., 2001 Apr;9:244-52; Fouchier SW et al. Hum. Genet., 2001 Dec;109:602-15). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic. |