ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4611+1G>A

dbSNP: rs1565461840
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000696736 SCV000825313 likely pathogenic Ataxia-telangiectasia syndrome 2019-11-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 574722). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 30 of the ATM gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. 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.
CeGaT Center for Human Genetics Tuebingen RCV000994708 SCV001148425 likely pathogenic not provided 2019-02-01 criteria provided, single submitter clinical testing

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