ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7737_7739AAG[1] (p.Arg2580del) (rs1064795204)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479155 SCV000570791 uncertain significance not provided 2016-06-24 criteria provided, single submitter clinical testing This in-frame deletion of 3 nucleotides in ATM is denoted c.7740_7742delAAG at the cDNA level and p.Arg2580del (R2580del) at the protein level. The normal sequence, with the bases that are deleted in braces, is GAAG[AAG]CAGA. This deletion of a single Arginine residue occurs at a position that is conserved across species and is not located in a known functional 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 Arg2580del to be a variant of uncertain significance.

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