ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter)

dbSNP: rs864622479
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000204978 SCV000260790 pathogenic Ataxia-telangiectasia syndrome 2024-01-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1530*) 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 premature translational stop signal has been observed in individual(s) with ataxia-telangiectasia (PMID: 16189143). ClinVar contains an entry for this variant (Variation ID: 220328). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000204978 SCV000678036 likely pathogenic Ataxia-telangiectasia syndrome 2017-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022740 SCV001184510 pathogenic Hereditary cancer-predisposing syndrome 2024-08-23 criteria provided, single submitter clinical testing The p.E1530* pathogenic mutation (also known as c.4588G>T), located in coding exon 29 of the ATM gene, results from a G to T substitution at nucleotide position 4588. This changes the amino acid from a glutamic acid to a stop codon within coding exon 29. This alteration was identified in at least one individual with a clinical diagnosis of ataxia telangiectasia (Taylor AM et al. J. Clin. Pathol. 2005 Oct;58:1009-15). In addition to the clinical data presented in the literature, 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. RCV004020529 SCV004933487 pathogenic Familial cancer of breast 2024-01-24 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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