Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000537049 | SCV000622303 | uncertain significance | Ataxia-telangiectasia syndrome | 2019-09-06 | criteria provided, single submitter | clinical testing | This sequence change affects codon 681 of the ATM mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ATM protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an ATM-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance. |
Gene |
RCV000603603 | SCV000717271 | likely benign | not specified | 2017-03-16 | 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. |
Color | RCV000771709 | SCV000904345 | likely benign | Hereditary cancer-predisposing syndrome | 2018-02-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000771709 | SCV001174851 | likely benign | Hereditary cancer-predisposing syndrome | 2016-01-18 | criteria provided, single submitter | clinical testing | Synonymous alterations with insufficient evidence to classify as benign |