ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.815A>C (p.Asn272Thr)

dbSNP: rs202213054
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237287 SCV000294990 uncertain significance Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation RCV000237287 SCV000540761 uncertain significance Hypercholesterolemia, familial, 1 2016-11-05 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001179370 SCV001344021 uncertain significance Familial hypercholesterolemia 2023-03-15 criteria provided, single submitter clinical testing This missense variant (also known as p.Asn251Thr in the mature protein) replaces asparagine with threonine at codon 272 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 reported in individuals affected with familial hypercholesterolemia (PMID: 21310417, 22698793, 23130880, 28965616). This variant has also been reported in compound heterozygous state in an individual affected with homozygous familial hypercholesterolemia (PMID: 36325061). 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV000237287 SCV001428944 uncertain significance Hypercholesterolemia, familial, 1 2021-07-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001283998 SCV001469537 uncertain significance not provided 2021-02-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000237287 SCV004820218 uncertain significance Hypercholesterolemia, familial, 1 2023-06-26 criteria provided, single submitter clinical testing This missense variant (also known as p.Asn251Thr in the mature protein) replaces asparagine with threonine at codon 272 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 reported in individuals affected with familial hypercholesterolemia (PMID: 21310417, 22698793, 23130880, 28965616). This variant has also been reported in compound heterozygous state in an individual affected with homozygous familial hypercholesterolemia (PMID: 36325061). 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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