Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237921 | SCV000295235 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000237921 | SCV000503302 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subjects mutated among 2600 FH index cases screened = 3 , family members = 4 with co-segregation / previously described in association with FH / Software predictions: Damaging |
U4M - |
RCV000237921 | SCV000583792 | pathogenic | Familial hypercholesterolemia 1 | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Fundacion Hipercolesterolemia Familiar | RCV000237921 | SCV000607561 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | |
Fulgent Genetics, |
RCV000237921 | SCV000894173 | pathogenic | Familial hypercholesterolemia 1 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001063149 | SCV001227983 | pathogenic | Familial hypercholesterolemia | 2019-03-22 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine with cysteine at codon 375 of the LDLR protein (p.Tyr375Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with familial hypercholesterolemia in a family (PMID: 9195230) and in individuals affected with this condition (PMID: 11668640, 15823288). This variant is also known as Y354C in the literature. ClinVar contains an entry for this variant (Variation ID: 251679). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic. |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000237921 | SCV001433510 | likely pathogenic | Familial hypercholesterolemia 1 | 2019-09-05 | criteria provided, single submitter | clinical testing |