ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5460dup (p.Cys1821fs)

dbSNP: rs1057516760
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411104 SCV000486182 likely pathogenic Ataxia-telangiectasia syndrome 2016-04-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000411104 SCV000547083 pathogenic Ataxia-telangiectasia syndrome 2019-03-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 370779). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys1821Metfs*2) in the ATM gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV004022139 SCV004931582 pathogenic Familial cancer of breast 2024-01-25 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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