Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000159628 | SCV000209615 | pathogenic | not provided | 2014-03-24 | criteria provided, single submitter | clinical testing | This pathogenic variant is denoted ATM c.2564dupT at the cDNA level and p.Met855IlefsX5 (M855IfsX5) at the protein level. The normal sequence, with the base that is duplicated in brackets, is TCCA[T]GAAT. The duplication causes a frameshift, which changes a Methionine to an Isoleucine at codon 855, and creates a premature stop codon at position 5 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, it is considered pathogenic. |
Invitae | RCV001390408 | SCV001592133 | pathogenic | Ataxia-telangiectasia syndrome | 2020-08-14 | 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: 181870). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Met855Ilefs*5) in the ATM gene. It is expected to result in an absent or disrupted protein product. |
Myriad Genetics, |
RCV004019931 | SCV004932562 | pathogenic | Familial cancer of breast | 2024-01-18 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |