ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2165dup (p.Leu722fs)

dbSNP: rs1057516393
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409458 SCV000485583 likely pathogenic Ataxia-telangiectasia syndrome 2016-01-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000409458 SCV000948953 pathogenic Ataxia-telangiectasia syndrome 2021-11-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu722Phefs*16) 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: 370313). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002429336 SCV002727372 pathogenic Hereditary cancer-predisposing syndrome 2020-02-14 criteria provided, single submitter clinical testing The c.2165dupT pathogenic mutation, located in coding exon 13 of the ATM gene, results from a duplication of T at nucleotide position 2165, causing a translational frameshift with a predicted alternate stop codon (p.L722Ffs*16). 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. RCV003137983 SCV003806586 pathogenic Familial cancer of breast 2022-12-29 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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