ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1780_1781del (p.Glu594fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002404077 SCV002710343 pathogenic Hereditary cancer-predisposing syndrome 2020-11-06 criteria provided, single submitter clinical testing The c.1780_1781delGA pathogenic mutation, located in coding exon 10 of the ATM gene, results from a deletion of two nucleotides at nucleotide positions 1780 to 1781, causing a translational frameshift with a predicted alternate stop codon (p.E594Sfs*8). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV003500775 SCV004295578 pathogenic Ataxia-telangiectasia syndrome 2023-07-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu594Serfs*8) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant is not present in population databases (gnomAD no frequency). 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: 1779978). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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