Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000238309 | SCV000295497 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590312 | SCV000697200 | uncertain significance | not provided | 2016-12-08 | criteria provided, single submitter | clinical testing | Variant summary: The LDLR c.1561G>A (p.Ala521Thr) variant located in the Six-bladed beta-propeller, TolB-like and LDLR class B repeat (domain) causes a missense change involving a conserved nucleotide, which 5/5 in silico tools predict a damaging outcome, although these predictions have yet to be functionally assessed. The variant of interest was not observed in controls (ExAC, 1000 Gs, or ESP) and has been reported to cosegregate within a FH family. One database cites the variant as "uncertain significance." Therefore, the variant of interest has been classified as "Variant of Uncertain Significance - Possibly Pathogenic." |