ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2343G>T (p.Glu781Asp) (rs761683856)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237385 SCV000295959 likely benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Robarts Research Institute,Western University RCV000237385 SCV000484720 uncertain significance Familial hypercholesterolemia 1 2019-08-22 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group,Broad Institute RCV000237385 SCV001422787 uncertain significance Familial hypercholesterolemia 1 2020-01-22 no assertion criteria provided curation The p.Glu781Asp (sometimes called p.Glu760Asp) variant in LDLR has been reported in at least 1 Portuguese individual with Familial Hypercholesterolemia (PMID: 11668627, 27765764), and has been identified in 0.005782% (2/34592) of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs761683856). 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 as a likely benign and a likely pathogenic variant in ClinVar (Variation ID: 252290). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Glu781Asp variant is uncertain. ACMG/AMP Criteria applied: none (Richards 2015).

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