Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000479155 | SCV000570791 | uncertain significance | not provided | 2016-06-24 | criteria provided, single submitter | clinical testing | This in-frame deletion of 3 nucleotides in ATM is denoted c.7740_7742delAAG at the cDNA level and p.Arg2580del (R2580del) at the protein level. The normal sequence, with the bases that are deleted in braces, is GAAG[AAG]CAGA. This deletion of a single Arginine residue occurs at a position that is conserved across species and is not located in a known functional domain (Tavtigian 2009, Stracker 2013). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider ATM Arg2580del to be a variant of uncertain significance. |
| Labcorp Genetics |
RCV001297218 | SCV001486225 | uncertain significance | Ataxia-telangiectasia syndrome | 2020-04-08 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 421547). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is not present in population databases (ExAC no frequency). This variant, c.7740_7742del, results in the deletion of 1 amino acid(s) of the ATM protein (p.Arg2580del), but otherwise preserves the integrity of the reading frame. |