ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.292G>A (p.Gly98Ser) (rs750474121)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238329 SCV000294583 likely pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Color Health, Inc RCV001177872 SCV001342163 uncertain significance Familial hypercholesterolemia 2021-02-19 criteria provided, single submitter clinical testing This missense variant (also known as p.Gly77Ser in the mature protein) replaces glycine with serine at codon 98 of the LDLR protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). A functional study has shown that this variant does not impact LDLR binding, uptake, or localization (PMID: 28645073). This variant has been reported in a few individuals affected with familial hypercholesterolemia (PMID: 16250003, 28645073, Zhu et al. 2017) and in an individual affected with premature myocardial infarction (PMID: 30637778). This variant has also been identified in 10/282872 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.
GeneDx RCV001582801 SCV001812175 uncertain significance not provided 2019-06-18 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 32041611, 30971288, 28645073, 16250003, 27919364, 30637778, 30526649, 30333156)
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000238329 SCV000606065 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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