ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8530_8532dup (p.Ile2844dup) (rs1555138275)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485444 SCV000567109 uncertain significance not provided 2015-07-06 criteria provided, single submitter clinical testing This duplication of three nucleotides in ATM is denoted c.8530_8532dupATT at the cDNA level and p.Ile2844dup (I2844dup) at the protein level. The normal sequence, with the bases that are duplicated in braces, is AGCT[ATT]TGGT. This in frame duplication of a single Isoleucine residue occurs at a position that is conserved by class across species and is located within the PI3K/PI4K kinase domain (Tavtigian 2009). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in frame duplications may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider ATM Ile2844dup to be a variant of uncertain significance.
Invitae RCV000694450 SCV000822897 uncertain significance Ataxia-telangiectasia syndrome 2018-04-17 criteria provided, single submitter clinical testing This variant, c.8530_8532dupATT, results in the insertion of 1 amino acid to the ATM protein (p.Ile2844dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 419361). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acid is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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