ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5129_5763-1060del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823614 SCV000964479 likely pathogenic Ataxia-telangiectasia syndrome 2018-10-30 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing exons 35-38 and part of exon 34 (c.5129_5763-1060del) of the ATM gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been observed in an individual affected with ataxia-telangiectasia (PMID: 27664052). This variant is also known as c.5129_5762+1116 in the literature. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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