Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000471818 | SCV000551991 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001012607 | SCV001173082 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-12-24 | criteria provided, single submitter | clinical testing | The c.1675G>A (p.G559R) alteration is located in exon 11 (coding exon 11) of the PMS2 gene. This alteration results from a G to A substitution at nucleotide position 1675, causing the glycine (G) at amino acid position 559 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Color Diagnostics, |
RCV001012607 | SCV001343150 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-06-21 | criteria provided, single submitter | clinical testing | This missense variant replaces glycine with arginine at codon 559 of the PMS2 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 not been reported in individuals affected with PMS2-related disorders in the literature. This variant has been identified in 4/251274 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. |
Gene |
RCV003227761 | SCV003924627 | uncertain significance | not provided | 2023-03-28 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
All of Us Research Program, |
RCV004001876 | SCV004844160 | uncertain significance | Lynch syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing | This missense variant replaces glycine with arginine at codon 559 of the PMS2 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 not been reported in individuals affected with PMS2-related disorders in the literature. This variant has been identified in 4/251274 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. |