ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1080T>G (p.Asp360Glu)

gnomAD frequency: 0.00006  dbSNP: rs749322464
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001829453 SCV000752429 uncertain significance Familial hypercholesterolemia 2022-05-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 360 of the LDLR protein (p.Asp360Glu). This variant is present in population databases (rs749322464, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LDLR-related conditions. ClinVar contains an entry for this variant (Variation ID: 440624). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Color Diagnostics, LLC DBA Color Health RCV001829453 SCV004358507 uncertain significance Familial hypercholesterolemia 2023-04-04 criteria provided, single submitter clinical testing This missense variant (also known as p.Asp339Glu in the mature protein) replaces aspartic acid with glutamic acid at codon 360 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 not been reported in individuals affected with LDLR-related disorders in the literature. This variant has been identified in 3/251312 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.
All of Us Research Program, National Institutes of Health RCV000508886 SCV004829376 uncertain significance Hypercholesterolemia, familial, 1 2023-11-30 criteria provided, single submitter clinical testing This missense variant (also known as p.Asp339Glu in the mature protein) replaces aspartic acid with glutamic acid at codon 360 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 not been reported in individuals affected with LDLR-related disorders in the literature. This variant has been identified in 3/251312 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.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508886 SCV000606322 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research
Natera, Inc. RCV001829453 SCV002086403 uncertain significance Familial hypercholesterolemia 2019-11-11 no assertion criteria provided clinical testing

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