ClinVar Miner

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

dbSNP: rs1057524111
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001014848 SCV001175611 pathogenic Hereditary cancer-predisposing syndrome 2019-01-18 criteria provided, single submitter clinical testing The p.Y741* pathogenic mutation (also known as c.2223T>A), located in coding exon 13 of the ATM gene, results from a T to A 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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