ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6348-2A>G (rs864622367)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204096 SCV000260326 likely pathogenic Ataxia-telangiectasia syndrome 2015-08-30 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 43. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in ATM are known to be pathogenic (PMID: 10817650, 19781682). In summary, this variant is expected to lead to aberrant splicing, but experimental studies have not been reported to confirm this prediction. In the absence of experimental or genetic evidence for pathogenicity, this variant has been classified as Likely Pathogenic.

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