Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000493110 | SCV000581464 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-12-28 | criteria provided, single submitter | clinical testing | The p.W2344* pathogenic mutation (also known as c.7032G>A), located in coding exon 47 of the ATM gene, results from a G to A substitution at nucleotide position 7032. This changes the amino acid from a tryptophan to a stop codon within coding exon 47. 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. |
Invitae | RCV000628129 | SCV000749022 | pathogenic | Ataxia-telangiectasia syndrome | 2023-10-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp2344*) 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 (no rsID available, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with ATM-related disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 429080). For these reasons, this variant has been classified as Pathogenic. |
Sema4, |
RCV000493110 | SCV002536920 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2021-04-29 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002496891 | SCV002811451 | likely pathogenic | Familial cancer of breast; Ataxia-telangiectasia syndrome | 2021-07-13 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003470609 | SCV004207042 | pathogenic | Familial cancer of breast | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000493110 | SCV004361825 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-08-30 | criteria provided, single submitter | clinical testing | This variant changes 1 nucleotide in exon 48 of the ATM gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 3/251086 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of ATM function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
Myriad Genetics, |
RCV003470609 | SCV004930369 | pathogenic | Familial cancer of breast | 2024-01-30 | 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. |