ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr)

gnomAD frequency: 0.00003  dbSNP: rs764493597
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238445 SCV000295964 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Fundacion Hipercolesterolemia Familiar RCV000238445 SCV000607695 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Color Health, Inc RCV001523921 SCV001733661 uncertain significance Familial hypercholesterolemia 2020-08-17 criteria provided, single submitter clinical testing This missense variant (also known as p.Ile771Thr in the mature protein) replaces isoleucine with threonine at codon 792 of the LDLR protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with familial hypercholesterolemia (PMID: 19318025, 19446849). This variant has been identified in 29/282798 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.
GeneDx RCV001558972 SCV001781020 uncertain significance not provided 2020-05-04 criteria provided, single submitter clinical testing Reported in association with familial hypercholesterolemia (Guardamagna et al., 2009; Alonso et al., 2009); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32719484, 19318025, 19446849, 23375686)
AiLife Diagnostics, AiLife Diagnostics RCV001558972 SCV002502948 uncertain significance not provided 2021-11-05 criteria provided, single submitter clinical testing
Mendelics RCV002247687 SCV002518185 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001523921 SCV002086876 uncertain significance Familial hypercholesterolemia 2020-01-14 no assertion criteria provided clinical testing

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