Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000211687 | SCV000294607 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000211687 | SCV000503135 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subject mutated among 2600 FH index cases screened = 1, family member=1 |
U4M - |
RCV000211687 | SCV000583656 | pathogenic | Familial hypercholesterolemia 1 | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Fundacion Hipercolesterolemia Familiar | RCV000211687 | SCV000607442 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | |
Iberoamerican FH Network | RCV000211687 | SCV000748083 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | |
Invitae | RCV001054512 | SCV001218830 | pathogenic | Familial hypercholesterolemia | 2019-12-30 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 3 of the LDLR gene. It does not directly change the encoded amino acid sequence of the LDLR protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 21990180, 15241806). This variant is also known as c.313+1insT in the literature. ClinVar contains an entry for this variant (Variation ID: 226317). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 21990180). For these reasons, this variant has been classified as Pathogenic. |
Cardiovascular Genetics Laboratory, |
RCV000211687 | SCV000268555 | pathogenic | Familial hypercholesterolemia 1 | 2013-07-04 | no assertion criteria provided | clinical testing | |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000211687 | SCV000606076 | pathogenic | Familial hypercholesterolemia 1 | no assertion criteria provided | research |