ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1065+1G>T (rs201089102)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166070 SCV000216833 likely pathogenic Hereditary cancer-predisposing syndrome 2017-11-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (B-level) evidence supporting pathogenicity
Center for Human Genetics, Inc RCV000411731 SCV000781078 likely pathogenic Ataxia-telangiectasia syndrome 2016-11-01 criteria provided, single submitter clinical testing
Color RCV000166070 SCV000537619 likely pathogenic Hereditary cancer-predisposing syndrome 2018-05-28 criteria provided, single submitter clinical testing
Counsyl RCV000411731 SCV000487262 likely pathogenic Ataxia-telangiectasia syndrome 2016-11-02 criteria provided, single submitter clinical testing
GeneDx RCV000436210 SCV000517272 pathogenic not provided 2015-05-20 criteria provided, single submitter clinical testing This pathogenic variant is denoted ATM c.1065+1G>T or IVS8+1G>T and consists of a G>T nucleotide substitution at the +1 position of intron 8 of the ATM gene. Although this variant has not, to our knowledge, been published in the literature, it destroys a canonical splice donor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. We consider ATM c.1065+1G>T to be pathogenic. The presence of
Invitae RCV000411731 SCV000547061 likely pathogenic Ataxia-telangiectasia syndrome 2018-09-17 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 8 of the ATM gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been observed in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 186470). 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: 23807571, 25614872). 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.
Mendelics RCV000411731 SCV000838481 likely pathogenic Ataxia-telangiectasia syndrome 2018-07-02 criteria provided, single submitter clinical testing

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