ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1684_1686dup (p.Trp562dup)

dbSNP: rs879254983
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237781 SCV000295573 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
GeneDx RCV001753713 SCV001997131 uncertain significance not provided 2019-12-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Invitae RCV001854905 SCV002207179 uncertain significance Familial hypercholesterolemia 2022-03-18 criteria provided, single submitter clinical testing This variant, c.1684_1686dup, results in the insertion of 1 amino acid(s) of the LDLR protein (p.Trp562dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 22881376; Invitae). ClinVar contains an entry for this variant (Variation ID: 251967). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000237781 SCV000606481 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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