Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000160627 | SCV000211226 | uncertain significance | not provided | 2023-06-16 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with ovarian and renal cancer (Pal et al., 2012; Yehia et al., 2018); This variant is associated with the following publications: (PMID: 23047549, 29684080, 21120944, 18822302) |
Invitae | RCV000196535 | SCV000254429 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000491536 | SCV000580572 | likely benign | Hereditary cancer-predisposing syndrome | 2021-07-20 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Counsyl | RCV000662661 | SCV000785350 | uncertain significance | Lynch syndrome 1 | 2017-07-20 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000160627 | SCV000888231 | uncertain significance | not provided | 2019-01-30 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000491536 | SCV000911380 | likely benign | Hereditary cancer-predisposing syndrome | 2016-01-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000491536 | SCV002526744 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-12-29 | criteria provided, single submitter | curation | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002265637 | SCV002547927 | uncertain significance | not specified | 2022-05-10 | criteria provided, single submitter | clinical testing | Variant summary: MSH2 c.766G>A (p.Ala256Thr) results in a non-conservative amino acid change located in the DNA mismatch repair protein MutS, connector domain of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4.8e-05 in 251288 control chromosomes, predominantly at a frequency of 0.00074 within the African or African-American subpopulation in the gnomAD database. c.766G>A has been reported in the literature in an individual affected with ovarian cancer (Pal_2012). This report does not provide unequivocal conclusions about association of the variant with Prostate Cancer. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Five submitters classified the variant as VUS while one classified it as likely benign. Based on the evidence outlined above, the variant was classified as VUS. |
Myriad Genetics, |
RCV000662661 | SCV004018310 | benign | Lynch syndrome 1 | 2023-03-20 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752]. Homozygosity for this variant has been confirmed in one or more individuals lacking clinical features consistent with gene-specific recessive disease, indicating that this variant is unlikely to be pathogenic. |
Baylor Genetics | RCV000662661 | SCV004196238 | uncertain significance | Lynch syndrome 1 | 2023-09-22 | criteria provided, single submitter | clinical testing |