ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.391G>C (p.Asp131His)

dbSNP: rs879254511
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237668 SCV000294682 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV005090206 SCV005837767 uncertain significance Familial hypercholesterolemia 2024-09-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 131 of the LDLR protein (p.Asp131His). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal dominant familial hypercholesterolemia (PMID: 23375686). ClinVar contains an entry for this variant (Variation ID: 251200). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt LDLR protein function with a positive predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000237668 SCV000606103 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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