ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6239_6240del (p.Tyr2080fs) (rs878853529)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228891 SCV000283010 pathogenic Ataxia-telangiectasia syndrome 2016-02-18 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides in exon 43 of the ATM mRNA (c.6239_6240delAT), causing a frameshift at codon 2080. This creates a premature translational stop signal (p.Tyr2080Phefs*7) and is expected to result 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). For these reasons, this variant has been classified as Pathogenic.

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