Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Color Diagnostics, |
RCV000581239 | SCV000687284 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-05-02 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001202257 | SCV001373364 | pathogenic | Ataxia-telangiectasia syndrome | 2023-03-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys353Serfs*5) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with ATM-related cancers (PMID: 21933854, 29470806, 29506128). ClinVar contains an entry for this variant (Variation ID: 490410). For these reasons, this variant has been classified as Pathogenic. |
| Gene |
RCV001575287 | SCV001802249 | pathogenic | not provided | 2019-10-15 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); Observed in individuals with a personal or family history consistent with pathogenic variants in this gene (Mannan 2016, Lowery 2018, Singh 2018); This variant is associated with the following publications: (PMID: 21933854, 29470806, 26911350, 29506128, 10023947) |
| Ambry Genetics | RCV000581239 | SCV002713269 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-06-23 | criteria provided, single submitter | clinical testing | The c.1058_1059delGT pathogenic mutation, located in coding exon 7 of the ATM gene, results from a deletion of two nucleotides at nucleotide positions 1058 to 1059, causing a translational frameshift with a predicted alternate stop codon (p.C353Sfs*5). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Baylor Genetics | RCV003465296 | SCV004209467 | pathogenic | Familial cancer of breast | 2023-09-12 | criteria provided, single submitter | clinical testing |