Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000238057 | SCV000295445 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Labcorp Genetics |
RCV002229691 | SCV000821669 | uncertain significance | Familial hypercholesterolemia | 2018-06-07 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This variant, c.1460_1462delACA, results in the deletion of 1 amino acid(s) of the LDLR protein (p.Asn487del), but otherwise preserves the integrity of the reading frame. This variant has been reported in an individual affected with familial hypercholesterolemia (PMID: 7635482). This variant is also known as deltaN466 in the literature. ClinVar contains an entry for this variant (Variation ID: 251854). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. 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. |