ClinVar Miner

Submissions for variant NC_000011.9:g.(?_108150557)_(108153493_?)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 RCV002033748 SCV002284566 likely pathogenic Ataxia-telangiectasia syndrome 2021-03-17 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with ATM-related conditions. This variant results in the deletion of exon 24 and part of exon 25 (c.3402+222_3632delinsTGAGTTTTTATGGG) of the ATM gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872).

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