ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3994-2A>G (rs587782276)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131133 SCV000186065 pathogenic Hereditary cancer-predisposing syndrome 2018-01-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting pathogenic classification
Invitae RCV000198837 SCV000253669 likely pathogenic Ataxia-telangiectasia syndrome 2018-11-16 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 26 of the ATM gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs587782276, ExAC 0.006%). This variant has been reported in an individual with a personal history of breast cancer and family history of pancreatic cancer (PMID: 28956312) and in an individual undergoing hereditary cancer multi-gene panel testing for which clinical information was not provided (PMID: 24763289). ClinVar contains an entry for this variant (Variation ID: 142167). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ATM are known to be pathogenic (PMID: 25614872, 23807571). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Color RCV000131133 SCV000904688 likely pathogenic Hereditary cancer-predisposing syndrome 2018-09-24 criteria provided, single submitter clinical testing

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