ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1470dup (p.Thr491fs)

dbSNP: rs2135323866
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001558303 SCV001780217 pathogenic not provided 2023-01-30 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database
Fulgent Genetics, Fulgent Genetics RCV005040318 SCV005681215 likely pathogenic Familial cancer of breast; Ataxia-telangiectasia syndrome 2024-05-13 criteria provided, single submitter clinical testing

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