ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2307C>G (p.His769Gln)

gnomAD frequency: 0.00002  dbSNP: rs760479588
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001182969 SCV001348606 uncertain significance Familial hypercholesterolemia 2023-02-17 criteria provided, single submitter clinical testing This missense variant (also known as p.His748Gln in the mature protein) replaces histidine with glutamine at codon 769 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 not been reported in individuals affected with LDLR-related disorders in the literature. This variant has been identified in 11/250704 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 RCV001847185 SCV002104417 uncertain significance not provided 2021-09-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 922751; ClinVar); In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001182969 SCV002946374 likely benign Familial hypercholesterolemia 2024-07-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008339 SCV004818524 uncertain significance Hypercholesterolemia, familial, 1 2024-07-20 criteria provided, single submitter clinical testing This missense variant (also known as p.His748Gln in the mature protein) replaces histidine with glutamine at codon 769 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 not been reported in individuals affected with familial hypercholesterolemia in the literature. This variant has been identified in 11/250704 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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