ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2606_2607del (p.Ala869fs)

dbSNP: rs1057516944
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409497 SCV000486473 likely pathogenic Ataxia-telangiectasia syndrome 2016-06-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000583031 SCV000687397 pathogenic Hereditary cancer-predisposing syndrome 2020-05-13 criteria provided, single submitter clinical testing This variant deletes 2 nucleotides in exon 17 of the ATM gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000409497 SCV004250190 pathogenic Ataxia-telangiectasia syndrome 2023-12-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala869Glufs*14) 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: 371020). For these reasons, this variant has been classified as Pathogenic.

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