Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000005045 | SCV000823986 | pathogenic | Hypercholesterolemia, familial, 4 | 2023-08-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 4779). Disruption of this splice site has been observed in individual(s) with autosomal recessive hypercholesterolemia (PMID: 12016260, 15485476, 28965616). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs755104973, gnomAD 0.0009%). This sequence change affects an acceptor splice site in intron 1 of the LDLRAP1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in LDLRAP1 are known to be pathogenic (PMID: 11326085, 12464675). |
Fulgent Genetics, |
RCV000005045 | SCV002811523 | pathogenic | Hypercholesterolemia, familial, 4 | 2021-09-23 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000005045 | SCV003820918 | pathogenic | Hypercholesterolemia, familial, 4 | 2022-10-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000005045 | SCV004173378 | pathogenic | Hypercholesterolemia, familial, 4 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000005045 | SCV000025221 | pathogenic | Hypercholesterolemia, familial, 4 | 2003-09-05 | no assertion criteria provided | literature only | |
Natera, |
RCV001826420 | SCV002085920 | pathogenic | Familial hypercholesterolemia | 2021-06-23 | no assertion criteria provided | clinical testing |