ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.902A>G (p.Asp301Gly)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238358 SCV000295041 likely pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000238358 SCV000588526 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Fundacion Hipercolesterolemia Familiar RCV000238358 SCV000607519 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Invitae RCV001233629 SCV001406233 pathogenic Familial hypercholesterolemia 2020-01-10 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 301 of the LDLR protein (p.Asp301Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals with clinical features of familial hypercholesterolemia (PMID: 25463123, 25461735, 16250003, 11600564, 9090532, 15241806). This variant is also described as Asp280Gly (D280G) in the literature. ClinVar contains an entry for this variant (Variation ID: 251514). This variant has been reported to affect LDLR protein function (PMID: 25545329). This variant disrupts the p.Asp301 amino acid residue in LDLR. Other variant(s) that disrupt this residue have been observed in individuals with LDLR-related conditions (PMID: 12417285), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000238358 SCV000606261 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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