ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7089+2T>G (rs1057516235)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412080 SCV000485333 likely pathogenic Ataxia-telangiectasia syndrome 2015-11-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283602 SCV001158523 likely pathogenic none provided 2019-09-27 criteria provided, single submitter clinical testing The ATM c.7089+2T>G variant (rs1057516235), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 370103). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant disrupts the canonical splice donor site of intron 48, which is likely to negatively impact gene function. Based on available information, this variant is considered to be likely pathogenic.

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