ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1085A>C (p.Asp362Ala) (rs138315511)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030124 SCV000052779 likely pathogenic Familial hypercholesterolemia 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Cardiovascular Biomarker Research Laboratory,Mayo Clinic RCV000030124 SCV000266320 uncertain significance Familial hypercholesterolemia 2016-02-19 criteria provided, single submitter research MAF =<0.3%, likely pathogenic based on the integrative in-silico score, previously reported as P/LP in the literature
LDLR-LOVD, British Heart Foundation RCV000030124 SCV000295209 likely pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Robarts Research Institute,Western University RCV000030124 SCV000484750 likely pathogenic Familial hypercholesterolemia criteria provided, single submitter clinical testing
Color RCV000775055 SCV000909155 uncertain significance Familial hypercholesterolemias 2018-10-02 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant (also known as p.Asp341Ala in the mature protein) is located in the EGF-like repeat B of the EGF precursor homology domain of the LDLR protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. This variant has been reported in three individuals affected with familial hypercholesterolemia (PMID: 11810272, 15823288, 28145427). This variant has also been identified in 23/277094 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.
CSER_CC_NCGL; University of Washington Medical Center RCV000148563 SCV000190276 likely benign Hypercholesterolaemia 2014-06-01 no assertion criteria provided research
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000030124 SCV000606323 benign Familial hypercholesterolemia no assertion criteria provided research

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