ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.211G>T (p.Glu71Ter)

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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 RCV002417610 SCV002727089 pathogenic Hereditary cancer-predisposing syndrome 2020-09-29 criteria provided, single submitter clinical testing The p.E71* pathogenic mutation (also known as c.211G>T), located in coding exon 3 of the ATM gene, results from a G to T substitution at nucleotide position 211. This changes the amino acid from a glutamic acid to a stop codon within coding exon 3. 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.
Laboratory for Genotyping Development, RIKEN RCV003164550 SCV002758074 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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