Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237273 | SCV000294851 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Labcorp Genetics |
RCV003741171 | SCV004535610 | pathogenic | Familial hypercholesterolemia | 2022-10-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 251351). This variant is also known as del 37 in codon 196-208. This premature translational stop signal has been observed in individual(s) with familial hypercholesterolemia (PMID: 7649546). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp217Glufs*36) in the LDLR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073). |