ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.923G>A (p.Trp308Ter)

dbSNP: rs1591510553
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001019064 SCV001180373 pathogenic Hereditary cancer-predisposing syndrome 2018-06-28 criteria provided, single submitter clinical testing The p.W308* pathogenic mutation (also known as c.923G>A), located in coding exon 7 of the ATM gene, results from a G to A substitution at nucleotide position 923. This changes the amino acid from a tryptophan to a stop codon within coding exon 7. 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003321777 SCV004027143 likely pathogenic not provided 2023-08-15 criteria provided, single submitter clinical testing

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