ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.255G>T (p.Gln85His)

dbSNP: rs879254450
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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 RCV000237132 SCV000294558 uncertain significance Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
All of Us Research Program, National Institutes of Health RCV000237132 SCV004824562 uncertain significance Hypercholesterolemia, familial, 1 2023-06-26 criteria provided, single submitter clinical testing This missense variant (also known as p.Gln64His in the mature protein) replaces glutamine with histidine at codon 85 of the LDLR protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with autosomal dominant hypercholesterolemia (PMID: 20809525). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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