ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5293C>T (p.Gln1765Ter)

gnomAD frequency: 0.00001  dbSNP: rs2083444895
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001386150 SCV001586282 pathogenic Ataxia-telangiectasia syndrome 2023-08-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1765*) 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 premature translational stop signal has been observed in individual(s) with ataxia telangiectasia (PMID: 10817650). ClinVar contains an entry for this variant (Variation ID: 1073216). 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.
Color Diagnostics, LLC DBA Color Health RCV001525189 SCV001735231 pathogenic Hereditary cancer-predisposing syndrome 2021-08-09 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 35 of the ATM gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in individuals affected with ataxia telangiectasia (PMID: 10817650 , 23726790). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of ATM function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Myriad Genetics, Inc. RCV004037679 SCV004932143 pathogenic Familial cancer of breast 2024-01-25 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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