ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs)

dbSNP: rs1057516980
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410884 SCV000486540 likely pathogenic Ataxia-telangiectasia syndrome 2016-09-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000410884 SCV000547053 pathogenic Ataxia-telangiectasia syndrome 2020-08-27 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 371070). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser794Argfs*15) in the ATM gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002450946 SCV002735909 pathogenic Hereditary cancer-predisposing syndrome 2022-04-22 criteria provided, single submitter clinical testing The c.2377_2378dupAA pathogenic mutation, located in coding exon 15 of the ATM gene, results from a duplication of AA at nucleotide position 2377, causing a translational frameshift with a predicted alternate stop codon (p.S794Rfs*15). 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. RCV004022142 SCV004933743 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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