Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000464958 | SCV000558464 | likely benign | Ataxia-telangiectasia syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000580569 | SCV000682292 | likely benign | Hereditary cancer-predisposing syndrome | 2017-02-09 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000580569 | SCV002658334 | likely benign | Hereditary cancer-predisposing syndrome | 2015-11-16 | 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. |
| Myriad Genetics, |
RCV004591406 | SCV005085871 | benign | Familial cancer of breast | 2024-05-28 | 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. |
| Department of Pathology and Laboratory Medicine, |
RCV001354792 | SCV001549491 | likely benign | not provided | no assertion criteria provided | clinical testing | The ATM p.Ser1988= variant was not identified in the literature nor was it identified in the LOVD 3.0 database. The variant was identified in dbSNP (ID: rs774260725) as “With Likely benign allele” and ClinVar (as likely benign by Color and Invitae). The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016) or the Genome Aggregation Database (Feb 27, 2017). The p.Ser1988= variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. In addition, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign. |