ClinVar Miner

Submissions for variant NC_000011.10:g.(?_108248923)_(108249112_?)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 RCV001031803 SCV001195109 pathogenic Ataxia-telangiectasia syndrome 2019-10-18 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 9 of the ATM gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Deletion of exon 9 has not been reported in the literature in individuals with ATM-related disease. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.

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