ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1631A>C (p.Lys544Thr)

dbSNP: rs2077459016
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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 RCV001176186 SCV001340067 uncertain significance Familial hypercholesterolemia 2019-03-13 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant (also known as p.Lys523Thr in the mature protein) replaces lysine with threonine at codon 544 of the LDLR protein. Computational prediction tools and conservation analyses suggest that this variant may have deleterious impact on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant. This variant has been reported in an individual affected with familial hypercholesterolemia (PMID: 28502495). This variant is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively.
Fulgent Genetics, Fulgent Genetics RCV002483948 SCV002777580 uncertain significance Hypercholesterolemia, familial, 1 2021-09-12 criteria provided, single submitter clinical testing

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