ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2146G>A (p.Glu716Lys)

dbSNP: rs879255149
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238548 SCV000295901 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000238548 SCV000323003 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research 0/200 non-FH alleles
Color Diagnostics, LLC DBA Color Health RCV003581644 SCV004359060 uncertain significance Familial hypercholesterolemia 2023-04-19 criteria provided, single submitter clinical testing This missense variant (also known as p.Glu695Lys in the mature protein) replaces glutamic acid with lysine at codon 716 of the LDLR protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been observed in compound heterozygous state in an individual affected with homozygous familial hypercholesterolemia (PMID: 20828696, 26020417), indicating that this variant contributes to disease. This variant has not been identified 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.
All of Us Research Program, National Institutes of Health RCV000238548 SCV004829406 uncertain significance Hypercholesterolemia, familial, 1 2023-06-08 criteria provided, single submitter clinical testing This missense variant (also known as p.Glu695Lys in the mature protein) replaces glutamic acid with lysine at codon 716 of the LDLR protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been observed in compound heterozygous state in an individual affected with homozygous familial hypercholesterolemia (PMID: 20828696, 26020417), indicating that this variant contributes to disease. This variant has not been identified 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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