ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2225C>T (p.Thr742Ile) (rs767546791)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237861 SCV000295920 likely benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455106 SCV000539522 uncertain significance not specified 2017-01-31 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Insufficient evidence for VUS5
Color Health, Inc RCV001186236 SCV001352606 uncertain significance Familial hypercholesterolemia 2020-10-07 criteria provided, single submitter clinical testing This missense variant (also known as p.Thr721Ile in the mature protein) replaces threonine with isoleucine at codon 742 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 performed for this variant. This variant has been reported in an individual affected with hypercholesterolemia (PMID: 11462246) and an individual with myocardial infraction (Lali 2020). This variant has been identified in 2/251326 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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