Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237445 | SCV000295211 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Cardiovascular Research Group, |
RCV000237445 | SCV000322932 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | research | 0/208 non-FH alleles |
Invitae | RCV001318147 | SCV001508838 | uncertain significance | Familial hypercholesterolemia | 2020-08-20 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with asparagine at codon 363 of the LDLR protein (p.Thr363Asn). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and asparagine. This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 26020417). ClinVar contains an entry for this variant (Variation ID: 251656). |
Genome- |
RCV000237445 | SCV001653489 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2021-05-18 | criteria provided, single submitter | clinical testing |