ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2259dup (p.Gly754fs)

dbSNP: rs1555808118
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000844751 SCV000713484 pathogenic Homozygous familial hypercholesterolemia 2017-08-10 criteria provided, single submitter clinical testing The p.Gly754fs variant in LDLR has not been previously reported in individuals w ith hypercholesterolemia or in large population studies. This variant is predict ed to cause a frameshift, which alters the protein?s amino acid sequence beginni ng at position 754 and leads to a premature termination codon 28 amino acids dow nstream. This alteration is then predicted to lead to a truncated or absent prot ein. Heterozygous loss of LDLR function is an established disease mechanism in f amilial hypercholesterolemia (FH). In summary, this variant meets criteria to be classified as pathogenic for FH in an autosomal dominant manner based upon the predicted impact to the protein and absence from controls.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508815 SCV000606622 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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