ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.2389+4A>G (rs758493597)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fundacion Hipercolesterolemia Familiar RCV000237780 SCV000607698 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Iberoamerican FH Network RCV000237780 SCV000748157 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Invitae RCV000812185 SCV000952490 uncertain significance Familial hypercholesterolemias 2018-10-04 criteria provided, single submitter clinical testing This sequence change falls in intron 16 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 present in population databases (rs758493597, ExAC 0.002%). This variant has been observed in several individuals affected with familial hypercholesterolemia (PMID: 15241806). ClinVar contains an entry for this variant (Variation ID: 252304). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
LDLR-LOVD, British Heart Foundation RCV000237780 SCV000295974 likely benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237780 SCV000606636 benign Familial hypercholesterolemia no assertion criteria provided research

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