Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237937 | SCV000294468 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Labcorp Genetics |
RCV001036722 | SCV001200099 | pathogenic | Familial hypercholesterolemia | 2019-12-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln35*) in the LDLR gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073). This variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 9974426). This variant is also known as Q14X and FH-Milano-3 in the literature. ClinVar contains an entry for this variant (Variation ID: 251021). This variant is not present in population databases (ExAC no frequency). |
New York Genome Center | RCV000237937 | SCV002764561 | pathogenic | Hypercholesterolemia, familial, 1 | 2021-01-21 | criteria provided, single submitter | clinical testing | The c.103C>T, p.Gln35Ter variant identified in the LDLR gene is a nonsense change creates a premature translational stop signal at exon 2/18,and will produce a truncated protein through nonsense mediated mRNA decay. This variant has also been historically called as Q14X or FH-Milano 3, [PMID:9974426]. This variant is absent in gnomADv3.1 suggesting it is not a common benign variant in the populations represented in that database. Based on available evidence the c.103C>T, p.Gln35Terv ariant identified in the LDLR gene is reported as Pathogenic. |