ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8151+4A>T

dbSNP: rs1294982909
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570433 SCV000668047 uncertain significance Hereditary cancer-predisposing syndrome 2024-12-10 criteria provided, single submitter clinical testing The c.8151+4A>T intronic variant results from an A to T substitution 4 nucleotides after coding exon 54 in the ATM gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive and direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000700055 SCV000828793 uncertain significance Ataxia-telangiectasia syndrome 2023-08-04 criteria provided, single submitter clinical testing This sequence change falls in intron 55 of the ATM gene. It does not directly change the encoded amino acid sequence of the ATM protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 482680). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Natera, Inc. RCV000700055 SCV001462601 uncertain significance Ataxia-telangiectasia syndrome 2020-09-16 no assertion criteria provided clinical testing

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