ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4897A>T (p.Arg1633Ter)

dbSNP: rs1591685231
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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 RCV002340568 SCV002638872 pathogenic Hereditary cancer-predisposing syndrome 2022-09-30 criteria provided, single submitter clinical testing The p.R1633* pathogenic mutation (also known as c.4897A>T), located in coding exon 31 of the ATM gene, results from an A to T substitution at nucleotide position 4897. This changes the amino acid from an arginine to a stop codon within coding exon 31. 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.

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