ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6975+2T>C (rs879254199)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000582576 SCV000687743 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-09 criteria provided, single submitter clinical testing
GeneDx RCV000235948 SCV000293789 likely pathogenic not provided 2018-03-28 criteria provided, single submitter clinical testing This variant is denoted ATM c.6975+2T>C or IVS47+2T>C and consists of a T>C nucleotide substitution at the +2 position of intron 47 of the ATM gene. This variant destroys a canonical splice donor site and is predicted to cause abnormal gene splicing. Although the predicted impact of this variant is an in-frame deletion of a single exon, it is significant in that it leads to a loss of 55 amino acids within the FAT domain (Stracker 2013). ATM c.6975+2T>C has been reported in an individual with chronic lymphocytic leukemia (Sutton 2015). Based on currently available information, we consider ATM c.6975+2T>C to be a likely pathogenic variant.

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