ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.681dup (p.Gly228fs)

dbSNP: rs1591503359
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000806502 SCV000946506 pathogenic Ataxia-telangiectasia syndrome 2024-01-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly228Argfs*26) 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: 651194). For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000806502 SCV004223534 pathogenic Ataxia-telangiectasia syndrome 2023-11-02 criteria provided, single submitter clinical testing Variant summary: ATM c.681dupA (p.Gly228ArgfsX26) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Variants downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251126 control chromosomes (gnomAD). To our knowledge, no occurrence of c.681dupA in individuals affected with Ataxia-Telangiectasia and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Myriad Genetics, Inc. RCV004028248 SCV004930610 pathogenic Familial cancer of breast 2024-01-09 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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