ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5324del (p.Phe1774_Leu1775insTer)

dbSNP: rs2083496327
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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 RCV001038097 SCV001201544 pathogenic Ataxia-telangiectasia syndrome 2019-03-18 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 been observed in an individual affected with ataxia-telangiectasia (PMID: 10817650). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1775*) in the ATM gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV004031058 SCV005017903 pathogenic Hereditary cancer-predisposing syndrome 2023-11-17 criteria provided, single submitter clinical testing The c.5324delT pathogenic mutation, located in coding exon 35 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 5324, causing a translational frameshift with a predicted alternate stop codon (p.L1775*). This variant has been observed in individual(s) with ataxia-telangiectasia (Li A et al. Am J Med Genet, 2000 May;92:170-7). 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. RCV004789374 SCV005405952 pathogenic Familial cancer of breast 2024-09-18 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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