ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.72+2del

dbSNP: rs1555053972
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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 RCV000536866 SCV000622722 likely pathogenic Ataxia-telangiectasia syndrome 2017-02-20 criteria provided, single submitter clinical testing In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in ATM are known to be pathogenic (PMID: 10817650, 19781682). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic. This variant has not been reported in the literature in individuals with a ATM-related disease. This sequence change deletes 1 nucleotide from the donor splice site in intron 2 of the ATM gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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