ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7065_7067CAT[1] (p.Ile2356del) (rs879254220)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236073 SCV000293872 uncertain significance not provided 2016-02-08 criteria provided, single submitter clinical testing This in-frame deletion of three nucleotides in ATM is denoted c.7068_7070delCAT at the cDNA level and p.Ile2356del (I2356del) at the protein level. The normal sequence, with the bases that are deleted in braces, is TCAT[CAT]GCAG. This deletion results in the loss of a single Isoleucine residue at a position that is conserved across species and is within the FAT domain (Tavtigian 2009, Stracker 2013). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider ATM Ile2356del to be a variant of uncertain significance.

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