ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1727A>C (p.Tyr576Ser)

dbSNP: rs879254999
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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 RCV000237268 SCV000295615 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
deCODE genetics, Amgen RCV000237268 SCV004022249 likely pathogenic Hypercholesterolemia, familial, 1 2023-07-21 no assertion criteria provided research The variant NM_000527.5:c.1727A>C (chr19:11116880) in LDLR was detected in 7 heterozygotes out of 58K WGS Icelanders (MAF= 0,006%). Following imputation in a set of 166K Icelanders (11 imputed heterozygotes) we observed an association with LDL cholesterol using measurements from 128289 individuals (Effect (SD)= 1.88, P= 1.57e-06) and Non-HDL cholesterol using measurements from 136901 individuals (Effect (SD)= 1.87, P= 1.82e-06). This variant has been reported in ClinVar previously as likely pathogenic. Based on ACMG criteria (PS4, PM1, PP3, PP5) this variant classifies as likely pathogenic.

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