ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6452+2T>C (rs1064795006)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675168 SCV000800788 likely pathogenic Ataxia-telangiectasia syndrome 2017-09-18 criteria provided, single submitter clinical testing
GeneDx RCV000481420 SCV000570385 uncertain significance not provided 2016-05-23 criteria provided, single submitter clinical testing This variant is denoted ATM c.6452+2T>C or IVS44+2T>C and consists of a T>C nucleotide substitution at the +2 position of intron 44 of the ATM gene. This particular variant has not, to our knowledge, been published in the literature. Although this variant destroys a canonical splice donor site and is predicted to cause abnormal splicing of exon 44, the skipping of exon 44 is predicted to be an in-frame event. Since the rest of the protein is expected to be translated and the loss of this one exon may or may not inhibit proper protein functioning, the clinical significance of ATM c.6452+2T>C remains unclear at this time. Based on the currently available information, we consider ATM c.6452+2T>C to be a variant of uncertain significance.

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