ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1561G>A (p.Ala521Thr)

dbSNP: rs879254940
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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 RCV000238309 SCV000295497 uncertain significance Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590312 SCV000697200 uncertain significance not provided 2016-12-08 criteria provided, single submitter clinical testing Variant summary: The LDLR c.1561G>A (p.Ala521Thr) variant located in the Six-bladed beta-propeller, TolB-like and LDLR class B repeat (domain) causes a missense change involving a conserved nucleotide, which 5/5 in silico tools predict a damaging outcome, although these predictions have yet to be functionally assessed. The variant of interest was not observed in controls (ExAC, 1000 Gs, or ESP) and has been reported to cosegregate within a FH family. One database cites the variant as "uncertain significance." Therefore, the variant of interest has been classified as "Variant of Uncertain Significance - Possibly Pathogenic."

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