ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8305del (p.Trp2769fs)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002833587 SCV003214122 pathogenic Ataxia-telangiectasia syndrome 2024-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp2769Glyfs*37) 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: 2008065). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003464607 SCV004213960 likely pathogenic Familial cancer of breast 2021-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004064928 SCV005020530 pathogenic Hereditary cancer-predisposing syndrome 2024-02-28 criteria provided, single submitter clinical testing The c.8305delT pathogenic mutation, located in coding exon 56 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 8305, causing a translational frameshift with a predicted alternate stop codon (p.W2769Gfs*37). 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.
Fulgent Genetics, Fulgent Genetics RCV005045006 SCV005680927 likely pathogenic Familial cancer of breast; Ataxia-telangiectasia syndrome 2024-01-23 criteria provided, single submitter clinical testing

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