ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6323dup (p.Trp2109fs)

dbSNP: rs2136169465
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001389193 SCV001590461 pathogenic Ataxia-telangiectasia syndrome 2021-09-20 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant has not been reported in the literature in individuals with ATM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp2109Valfs*18) in the ATM gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002357295 SCV002654657 pathogenic Hereditary cancer-predisposing syndrome 2021-08-23 criteria provided, single submitter clinical testing The c.6323dupA pathogenic mutation, located in coding exon 42 of the ATM gene, results from a duplication of A at nucleotide position 6323, causing a translational frameshift with a predicted alternate stop codon (p.W2109Vfs*18). 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.
Myriad Genetics, Inc. RCV004037702 SCV004932713 pathogenic Familial cancer of breast 2024-01-29 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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