ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.835C>T (p.Pro279Ser)

dbSNP: rs1555803827
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fundacion Hipercolesterolemia Familiar RCV000509277 SCV000607508 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
All of Us Research Program, National Institutes of Health RCV000509277 SCV004824978 uncertain significance Hypercholesterolemia, familial, 1 2023-06-26 criteria provided, single submitter clinical testing This missense variant (also known as p.Pro258Ser in the mature protein) replaces proline with serine at codon 279 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 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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