Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000198514 | SCV000252950 | likely benign | Ataxia-telangiectasia syndrome | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV004700594 | SCV000517981 | likely pathogenic | not provided | 2024-03-22 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |
Color Diagnostics, |
RCV000579471 | SCV000682081 | likely benign | Hereditary cancer-predisposing syndrome | 2017-05-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000579471 | SCV003911251 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing | The c.2838+9C>G intronic variant results from a C to G substitution 9 nucleotides after coding exon 17 in the ATM gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however, RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). Another alteration impacting the same donor site (c.2838+1G>A) has been shown to have a similar impact on splicing in RNA studies (Ambry internal data) and has been reported in multiple individuals diagnosed with ataxia telangiectasia (A-T) (Buzin CH et al. Hum Mutat, 2003 Feb;21:123-31; Fusaro M et al. J Allergy Clin Immunol, 2021 02;147:734-737). Based on the majority of available evidence to date, this variant is likely to be pathogenic. |
Myriad Genetics, |
RCV004589847 | SCV005083086 | likely benign | Familial cancer of breast | 2024-05-10 | criteria provided, single submitter | clinical testing | This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. |
Prevention |
RCV004553071 | SCV004715137 | likely benign | ATM-related disorder | 2024-03-20 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |