ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1467dup (p.Ile490fs)

dbSNP: rs1555071002
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571047 SCV000676338 pathogenic Hereditary cancer-predisposing syndrome 2019-01-21 criteria provided, single submitter clinical testing The c.1467dupT pathogenic mutation, located in coding exon 9 of the ATM gene, results from a duplication of T at nucleotide position 1467, causing a translational frameshift with a predicted alternate stop codon (p.I490Yfs*9). 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 RCV001382938 SCV001581898 pathogenic Ataxia-telangiectasia syndrome 2021-04-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 487030). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile490Tyrfs*9) 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).
Myriad Genetics, Inc. RCV004024580 SCV004933921 pathogenic Familial cancer of breast 2024-01-16 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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