Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000218562 | SCV000277896 | likely benign | Hereditary cancer-predisposing syndrome | 2021-08-02 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Invitae | RCV000627720 | SCV000284111 | benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000482094 | SCV000565193 | uncertain significance | not provided | 2020-05-11 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Co-occurred with a pathogenic MSH2 variant, phase unknown, in a Lynch syndrome family (Wagner 2003); This variant is associated with the following publications: (PMID: 12658575, 25637381, 25871441, 26333163, 18383312) |
Color Diagnostics, |
RCV000218562 | SCV000903754 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-01-14 | criteria provided, single submitter | clinical testing | This missense variant replaces serine with leucine at codon 473 of the MSH2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has been reported in a suspected Lynch syndrome family that has a MSH2 truncation covariant (PMID: 12658575). This variant has been identified in 3/282678 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000482094 | SCV001134338 | uncertain significance | not provided | 2019-06-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003466964 | SCV004193910 | uncertain significance | Lynch syndrome 1 | 2023-10-30 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003997147 | SCV004833330 | uncertain significance | Lynch syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing | This missense variant replaces serine with leucine at codon 473 of the MSH2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has been reported in a suspected Lynch syndrome family that has a MSH2 truncation covariant (PMID: 12658575). This variant has been identified in 3/282678 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. |
CSER _CC_NCGL, |
RCV000148630 | SCV000190345 | likely benign | Colorectal cancer, non-polyposis | 2014-06-01 | no assertion criteria provided | research |