Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000704975 | SCV000833952 | pathogenic | Ataxia-telangiectasia syndrome | 2022-05-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 581216). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser227*) 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). |
Ambry Genetics | RCV002360820 | SCV002666325 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-06-04 | criteria provided, single submitter | clinical testing | The p.S227* pathogenic mutation (also known as c.680C>G), located in coding exon 6 of the ATM gene, results from a C to G substitution at nucleotide position 680. This changes the amino acid from a serine to a stop codon within coding exon 6. 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. |
Myriad Genetics, |
RCV004026677 | SCV004931739 | pathogenic | Familial cancer of breast | 2024-01-09 | 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. |
Baylor Genetics | RCV004026677 | SCV005056930 | likely pathogenic | Familial cancer of breast | 2024-02-29 | criteria provided, single submitter | clinical testing |