ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6387C>A (p.Tyr2129Ter)

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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 RCV002369133 SCV002659106 pathogenic Hereditary cancer-predisposing syndrome 2024-11-15 criteria provided, single submitter clinical testing The p.Y2129* pathogenic mutation (also known as c.6387C>A), located in coding exon 43 of the ATM gene, results from a C to A substitution at nucleotide position 6387. This changes the amino acid from a tyrosine to a stop codon within coding exon 43. 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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