Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000159699 | SCV000209709 | uncertain significance | not provided | 2014-07-02 | criteria provided, single submitter | clinical testing | This variant is denoted ATM c.2598T>G at the DNA level. Although the variant is silent at the coding level, preserving a Valine at codon 866, it is predicted to cause abnormal splicing. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM 2598T>G was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The nucleotide which is altered, a thymine (T) at base 2598, is moderately conserved across species with guanine (G) being the naturally occurring amino acid in other mammals. Based on currently available information, it is unclear whether ATM 2598T>G is pathogenic or benign. We consider it to be a variant of uncertain significance. |
Ambry Genetics | RCV000562239 | SCV000665252 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-09 | 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. |
Color Diagnostics, |
RCV000562239 | SCV000913902 | likely benign | Hereditary cancer-predisposing syndrome | 2018-06-26 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001078605 | SCV001070380 | likely benign | Ataxia-telangiectasia syndrome | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001199919 | SCV001370694 | likely benign | not specified | 2020-05-30 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV004589671 | SCV005085139 | benign | Familial cancer of breast | 2024-05-09 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |