ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1115_1123delinsCACTGA (p.Glu372_Tyr375delinsAlaLeuAsn)

dbSNP: rs879254795
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237837 SCV000295226 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
GeneDx RCV004591097 SCV005079219 uncertain significance not provided 2023-09-06 criteria provided, single submitter clinical testing Has been reported in association with familial hypercholesterolemia (Yamakawa-Kobayashi et al., 1994); Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 4 amino acids and insertion of 3 amino acids in a non-repeat region; This variant is associated with the following publications: (PMID: 8005585)

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