ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1978C>T (p.Gln660Ter) (rs193922569)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030130 SCV000052785 likely pathogenic Familial hypercholesterolemia 1 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000030130 SCV000503445 pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1
GeneDx RCV000498572 SCV000589576 pathogenic not provided 2017-06-02 criteria provided, single submitter clinical testing The Q660X variant in the LDLR gene has been reported previously as Q639X (due to alternate nomenclature) in one Flemish individual with FH (Varret et al., 1998). The Q660X variant is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the LDLR gene have been reported in the Human Gene Mutation Database in association with FH, and loss-of-function is an established mechanism of disease in the LDLR gene (Stenson et al., 2014). Furthermore, the Q660X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).

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