ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7430_7432del (p.Gly2477del)

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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 RCV003607087 SCV004538892 uncertain significance Ataxia-telangiectasia syndrome 2023-05-24 criteria provided, single submitter clinical testing This variant, c.7430_7432del, results in the deletion of 1 amino acid(s) of the ATM protein (p.Gly2477del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with hereditary breast and ovarian cancer (HBOC) (PMID: 30287823). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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