ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3603del (p.Phe1201fs)

dbSNP: rs1057517129
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410047 SCV000486794 likely pathogenic Ataxia-telangiectasia syndrome 2016-08-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000410047 SCV001590027 pathogenic Ataxia-telangiectasia syndrome 2024-08-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe1201Leufs*6) 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: 371256). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV004022146 SCV004930500 pathogenic Familial cancer of breast 2024-01-22 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Ambry Genetics RCV004948276 SCV005515868 pathogenic Hereditary cancer-predisposing syndrome 2024-11-22 criteria provided, single submitter clinical testing The c.3603delT pathogenic mutation, located in coding exon 24 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 3603, causing a translational frameshift with a predicted alternate stop codon (p.F1201Lfs*6). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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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