Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Color Diagnostics, |
RCV000581392 | SCV000687782 | benign | Hereditary cancer-predisposing syndrome | 2016-08-05 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000613245 | SCV000729833 | likely benign | not specified | 2017-09-01 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Labcorp Genetics |
RCV002061685 | SCV002397234 | likely benign | Ataxia-telangiectasia syndrome | 2023-12-30 | criteria provided, single submitter | clinical testing | |
| Department of Pathology and Laboratory Medicine, |
RCV001357037 | SCV001552364 | likely benign | Carcinoma of colon | no assertion criteria provided | clinical testing | The ATM c.7629+13G>A variant was not identified in the literature nor was it identified in the LOVD 3.0 database. The variant was identified in dbSNP (ID: rs563651647) as "With Likely benign allele", ClinVar (classified as benign by Color Genomics and as likely benign by GeneDx).The variant was identified in control databases in 49 of 240160 chromosomes at a frequency of 0.0002 increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: South Asian in 49 of 29250 chromosomes (freq: 0.002), while the variant was not observed in the African, Other, Latino, European Non-Finnish, Ashkenazi Jewish, East Asian, or European Finnish populations. The variant occurs outside of the splicing consensus sequence and 0 of 4 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. 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. |