ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6526_6532del (p.Leu2176fs)

dbSNP: rs2085199149
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001071723 SCV001237041 pathogenic Ataxia-telangiectasia syndrome 2023-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu2176Profs*57) 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: 864515). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002365787 SCV002659327 pathogenic Hereditary cancer-predisposing syndrome 2021-07-28 criteria provided, single submitter clinical testing The c.6526_6532delTTGCAGG pathogenic mutation, located in coding exon 44 of the ATM gene, results from a deletion of 7 nucleotides at nucleotide positions 6526 to 6532, causing a translational frameshift with a predicted alternate stop codon (p.L2176Pfs*57). 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.

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