ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1400C>T (p.Thr467Ile)

dbSNP: rs754411636
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237455 SCV000295412 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
All of Us Research Program, National Institutes of Health RCV000237455 SCV004821702 uncertain significance Hypercholesterolemia, familial, 1 2023-02-24 criteria provided, single submitter clinical testing This missense variant (also known as p.Thr446Ile in the mature protein) replaces threonine with isoleucine at codon 467 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 been reported in an individual affected with familial hypercholesterolemia (PMID: 19318025). This variant has been identified in 1/251108 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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