ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.165C>G (p.Gly55=) (rs150644181)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute,Western University RCV000408777 SCV000484772 benign Familial hypercholesterolemia 1 2019-08-22 criteria provided, single submitter clinical testing
Invitae RCV000866978 SCV001008155 likely benign Familial hypercholesterolemia 2020-11-19 criteria provided, single submitter clinical testing
Color Health, Inc RCV000866978 SCV001346456 likely benign Familial hypercholesterolemia 2017-09-01 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000408777 SCV000606029 benign Familial hypercholesterolemia 1 no assertion criteria provided research
Broad Institute Rare Disease Group, Broad Institute RCV000408777 SCV001422914 likely benign Familial hypercholesterolemia 1 2020-01-22 no assertion criteria provided curation The c.165C>G variant in LDLR has been reported in 1 individual with Familial Hypercholesterolemia in ClinVar (Variation ID: 369857), and has been identified in 0.05211% (13/24946) of African chromosomes by the Genome Aggregation Database (gnomAD,; dbSNP rs150644181). Please note that for diseases with clinical variability, or reduced penetrance, pathogenic variants may be present at a low frequency in the general population. This variant has also been reported likely pathogenic and benign in ClinVar (Variation ID: 369857). Computational prediction tools and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely benign. ACMG/AMP Criteria applied: BP4, BP7 (Richards 2015).

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