ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.792G>A (p.Met264Ile)

dbSNP: rs1200173530
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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 RCV001190779 SCV001358363 uncertain significance Familial hypercholesterolemia 2023-12-06 criteria provided, single submitter clinical testing This missense variant replaces methionine with isoleucine at codon 264 of the LDLR protein. This variant is also known as p.Met243Ile 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 been reported in at least one individual affected with familial hypercholesterolemia (PMID: 33740630). This variant has been identified in 1/251480 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.
Breakthrough Genomics, Breakthrough Genomics RCV004695135 SCV005192580 uncertain significance not provided criteria provided, single submitter not provided

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