ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8418+704G>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002932695 SCV003260385 pathogenic Ataxia-telangiectasia syndrome 2023-05-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that this variant results in activation of a cryptic splice site and introduces a premature termination codon (Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 2052386). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 57 of the ATM gene. It does not directly change the encoded amino acid sequence of the ATM protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product.
Ambry Genetics RCV003170579 SCV003858411 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-19 criteria provided, single submitter clinical testing The c.8418+704G>T intronic alteration consists of a G to T substitution 04 nucleotides after coding exon 56 in the ATM gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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