ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3403-?_*(1_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204339 SCV000260060 pathogenic Ataxia-telangiectasia syndrome 2015-08-25 criteria provided, single submitter clinical testing This sequence change is a gross deletion of the genomic region encompassing exons 24 - 63 of the ATM gene. The 5' boundary is likely confined to the intronic region between exons 23 and 24; the 3' boundary of this event is unknown as it extends to the edge of the assayed region and may encompass additional genes. However, this deletion is expected to result in a severely truncated and non-functional ATM protein. While this gross deletion has not been reported in the literature, truncating variants in ATM are known to be pathogenic (PMID: 10817650, 19781682). For these reasons, this variant has been classified as Pathogenic.

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