ClinVar Miner

Submissions for variant NC_000011.9:g.(?_108204603)_(108204705_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001381459 SCV001579845 pathogenic Ataxia-telangiectasia syndrome 2022-10-31 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 54 of the ATM gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). A similar copy number variant has been observed in individual(s) with autosomal recessive ataxia telangiectasia and/or clinical features of ataxia telangiectasia (PMID: 12072877, 26896183). For these reasons, this variant has been classified as Pathogenic.

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