ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2223T>G (p.Tyr741Ter)

dbSNP: rs1057524111
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235366 SCV001408048 pathogenic Ataxia-telangiectasia syndrome 2021-02-27 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. This sequence change creates a premature translational stop signal (p.Tyr741*) in the ATM gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002430007 SCV002727523 pathogenic Hereditary cancer-predisposing syndrome 2020-08-25 criteria provided, single submitter clinical testing The p.Y741* pathogenic mutation (also known as c.2223T>G), located in coding exon 13 of the ATM gene, results from a T to G substitution at nucleotide position 2223. This changes the amino acid from a tyrosine to a stop codon within coding exon 13. 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.

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