ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4776+1G>T (rs771117943)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573615 SCV000660445 pathogenic Hereditary cancer-predisposing syndrome 2018-11-09 criteria provided, single submitter clinical testing Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity;Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Color RCV000573615 SCV000687567 likely pathogenic Hereditary cancer-predisposing syndrome 2019-03-18 criteria provided, single submitter clinical testing
Counsyl RCV000669160 SCV000793880 likely pathogenic Ataxia-telangiectasia syndrome 2017-09-12 criteria provided, single submitter clinical testing
Invitae RCV000669160 SCV000823408 likely pathogenic Ataxia-telangiectasia syndrome 2018-03-25 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 31 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 (rs771117943, ExAC 0.02%). This variant has been reported in an individual affected with ataxia-telangiectasia (PMID: 20840352). ClinVar contains an entry for this variant (Variation ID: 478920). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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