Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000409906 | SCV000486319 | likely pathogenic | Ataxia-telangiectasia syndrome | 2016-05-11 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000409906 | SCV001588704 | pathogenic | Ataxia-telangiectasia syndrome | 2024-01-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1578*) 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 present in population databases (rs746499337, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with ataxia-telangiectasia (PMID: 12815592, 15039971). ClinVar contains an entry for this variant (Variation ID: 370892). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV003168592 | SCV003866508 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-11-22 | criteria provided, single submitter | clinical testing | The p.Q1578* pathogenic mutation (also known as c.4732C>T), located in coding exon 30 of the ATM gene, results from a C to T substitution at nucleotide position 4732. This changes the amino acid from a glutamine to a stop codon within coding exon 30. This variant has been confirmed in trans with an ATM pathogenic variant in an individual diagnosed with ataxia-telangiectasia (Mitui M et al. Hum Mutat, 2003 Jul;22:43-50). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. |
| Baylor Genetics | RCV003470336 | SCV004210212 | pathogenic | Familial cancer of breast | 2023-07-01 | criteria provided, single submitter | clinical testing | |
| Myriad Genetics, |
RCV003470336 | SCV004933282 | pathogenic | Familial cancer of breast | 2024-01-24 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |