ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4236+1G>C

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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 RCV003029584 SCV003327543 likely pathogenic Ataxia-telangiectasia syndrome 2023-07-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2108805). Studies have shown that disruption of this splice site results in skipping of exon 28 and introduces a premature termination codon (Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. 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. Disruption of this splice site has been observed in individual(s) with ovarian, lung, and renal cell cancer (PMID: 30322717, 32866655, 34654685). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 28 of the ATM gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product.

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