Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000415022 | SCV000493031 | pathogenic | Cerebellar ataxia; Immunodeficiency; Conjunctival telangiectasia; Oculomotor apraxia | 2014-03-11 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000798055 | SCV000937650 | pathogenic | Ataxia-telangiectasia syndrome | 2024-01-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn230Ilefs*4) 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 variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 374194). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV001025773 | SCV001188025 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-09-06 | criteria provided, single submitter | clinical testing | The c.689delA pathogenic mutation, located in coding exon 6 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 689, causing a translational frameshift with a predicted alternate stop codon (p.N230Ifs*4). This mutation, designated 687delA, was identified in an Austrian family with three or more affected individuals, including two diagnosed with breast cancer before age 50 (Thorstenson YR et al. Cancer Res. 2003 Jun;63:3325-33). In addition to the clinical data presented in the literature, 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. |
Department of Molecular Diagnostics, |
RCV001310113 | SCV001499654 | pathogenic | Familial cancer of breast | 2020-04-02 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001025773 | SCV002538561 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2021-11-04 | criteria provided, single submitter | curation | |
Centre for Mendelian Genomics, |
RCV001310113 | SCV002762780 | pathogenic | Familial cancer of breast | 2022-12-09 | criteria provided, single submitter | research | PVS1, PM2_SUP, PM3_SUP |
Myriad Genetics, |
RCV001310113 | SCV004931900 | pathogenic | Familial cancer of breast | 2024-01-09 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |