ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2295del (p.Asn765fs)

dbSNP: rs876658583
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222588 SCV000274027 pathogenic Hereditary cancer-predisposing syndrome 2020-09-16 criteria provided, single submitter clinical testing The c.2295delT pathogenic mutation, located in coding exon 14 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 2295, causing a translational frameshift with a predicted alternate stop codon (p.N765Kfs*12). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000627988 SCV000748875 pathogenic Ataxia-telangiectasia syndrome 2024-01-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn765Lysfs*12) 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: 230468). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000627988 SCV000790312 likely pathogenic Ataxia-telangiectasia syndrome 2017-03-10 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004020655 SCV004931435 pathogenic Familial cancer of breast 2024-01-17 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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