Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000213394 | SCV000275928 | likely benign | Hereditary cancer-predisposing syndrome | 2019-09-05 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign);No disease association in small case-control study;RNA Studies |
| Gene |
RCV000430951 | SCV000512152 | benign | not specified | 2015-04-20 | 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. |
| Invitae | RCV000988671 | SCV000546998 | likely benign | Ataxia-telangiectasia syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
| Integrated Genetics/Laboratory Corporation of America | RCV000589172 | SCV000694248 | uncertain significance | not provided | 2017-02-16 | criteria provided, single submitter | clinical testing | Variant summary: The ATM c.3077+4G>A variant involves the alteration of a non-conserved intronic nucleotide, which 3/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 10/120454 (1/12045), predominantly in the African cohort, 10/10206 (1/1020). This frequency is slightly lower or in similar range with that of the estimated maximal expected allele frequency of a pathogenic ATM variant (0.0010005) based on the prevalence of HBOC. This finding suggests that it may be a benign polymorphism found primarily in the populations of African origin. For comparison, the most well-known splice site pathogenic variant in African Americans is c.2851-10T>G, which is not found in about 120,000 ExAC chromosomes at all. One clinical diagnostic laboratory has classified this variant as uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Although, a clinical diagnostic laboratory classified this variant as uncertain significance. Taken together, this variant is classified as a "Variant of Uncertain Significance - Possibly Benign." |
| Color | RCV000213394 | SCV000903068 | likely benign | Hereditary cancer-predisposing syndrome | 2016-02-10 | criteria provided, single submitter | clinical testing | |
| Mendelics | RCV000988671 | SCV001138482 | uncertain significance | Ataxia-telangiectasia syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing |