ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4115del (p.Leu1372fs)

dbSNP: rs2082638431
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224516 SCV001396717 pathogenic Ataxia-telangiectasia syndrome 2022-05-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1372Trpfs*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: 952408). For these reasons, this variant has been classified as Pathogenic.
Color Diagnostics, LLC DBA Color Health RCV003584861 SCV004360968 pathogenic Hereditary cancer-predisposing syndrome 2023-06-13 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 28 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. This variant has been reported in an individual referred for genetic counseling (PMID: 36132150). 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.

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