Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001019079 | SCV001180390 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-08-17 | criteria provided, single submitter | clinical testing | The c.318delA pathogenic mutation, located in coding exon 3 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 318, causing a translational frameshift with a predicted alternate stop codon (p.K106Nfs*10). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). As such, this alteration is interpreted as a disease-causing mutation. |
Invitae | RCV001206502 | SCV001377812 | pathogenic | Ataxia-telangiectasia syndrome | 2022-09-01 | 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: 823129). 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.Lys106Asnfs*10) 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). |