ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1060+9C>T (rs540073140)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute,Western University RCV000408891 SCV000484783 likely pathogenic Familial hypercholesterolemia 1 criteria provided, single submitter clinical testing
Invitae RCV000953945 SCV001100545 likely benign Familial hypercholesterolemia 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000953945 SCV001349582 likely benign Familial hypercholesterolemia 2018-12-14 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group,Broad Institute RCV000408891 SCV001423095 likely benign Familial hypercholesterolemia 1 2020-01-22 no assertion criteria provided curation The c.1060+9C>T variant in LDLR has been reported in one individual with Familial Hypercholesterolemia in ClinVar (Variation ID: 369861), and has been identified in 0.04012% (8/19942) of East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs540073140). 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 in ClinVar (Variation ID: 369861). 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: BS1_Supporting, BP4, BP7 (Richards 2015).

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