ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.118A>G (p.Ile40Val)

gnomAD frequency: 0.00001  dbSNP: rs765969972
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fundacion Hipercolesterolemia Familiar RCV000509299 SCV000607419 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Color Diagnostics, LLC DBA Color Health RCV001180282 SCV001345166 uncertain significance Familial hypercholesterolemia 2023-05-18 criteria provided, single submitter clinical testing This missense variant (also known as p.Ile19Val in the mature protein) replaces isoleucine with valine at codon 40 of the LDLR protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with LDLR-related disorders in the literature. This variant has been identified in 3/251276 chromosomes 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.
Fulgent Genetics, Fulgent Genetics RCV000509299 SCV002793805 uncertain significance Hypercholesterolemia, familial, 1 2021-08-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000509299 SCV004820117 uncertain significance Hypercholesterolemia, familial, 1 2024-05-30 criteria provided, single submitter clinical testing This missense variant (also known as p.Ile19Val in the mature protein) replaces isoleucine with valine at codon 40 of the LDLR protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with familial hypercholesterolemia in the literature. This variant has been identified in 3/251276 chromosomes in the general population by the Genome Aggregation Database (gnomAD). 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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