ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2416G>T (p.Val806Phe)

gnomAD frequency: 0.00001  dbSNP: rs745429866
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000775619 SCV000909983 uncertain significance Familial hypercholesterolemia 2022-11-16 criteria provided, single submitter clinical testing This missense variant (also known as p.Val785Phe in the mature protein) replaces valine with phenylalanine at codon 806 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 2/251370 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 RCV004001458 SCV004820684 uncertain significance Hypercholesterolemia, familial, 1 2024-05-14 criteria provided, single submitter clinical testing This missense variant (also known as p.Val785Phe in the mature protein) replaces valine with phenylalanine at codon 806 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 familial hypercholesterolemia in the literature. This variant has been identified in 2/251370 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.

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