Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237287 | SCV000294990 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Molecular Genetics Laboratory, |
RCV000237287 | SCV000540761 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-11-05 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
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, |
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, |
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. |