ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3754_3755TA[3] (p.Lys1253fs) (rs1555093289)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000771669 SCV000904293 pathogenic Hereditary cancer-predisposing syndrome 2017-11-09 criteria provided, single submitter clinical testing
Invitae RCV000540346 SCV000622455 pathogenic Ataxia-telangiectasia syndrome 2017-02-16 criteria provided, single submitter clinical testing This sequence change inserts 2 nucleotide in exon 26 of the ATM mRNA (c.3756_3757dupTA), causing a frameshift at codon 1253. This creates a premature translational stop signal (p.Lys1253Ilefs*4) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function 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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