ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2215C>G (p.Gln739Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004806759 SCV005427648 uncertain significance Hypercholesterolemia, familial, 1 2024-03-24 criteria provided, single submitter clinical testing This missense variant replaces glutamine with glutamic acid at codon 739 of the LDLR protein. This variant is also known as p.Gln718Glu in the mature protein. Computational prediction tools indicate that this variant has a neutral impact on protein structure and function. 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 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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