ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3675_3677del (p.Gln1225_Asp1226delinsHis) (rs1064795822)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482005 SCV000571997 uncertain significance not provided 2016-10-17 criteria provided, single submitter clinical testing This in-frame deletion of three nucleotides in ATM is denoted c.3675_3677delAGA at the cDNA level and p.Gln1225_Asp1226delinsHis (Q1225_D1226delinsH) at the protein level. The normal sequence, with the bases that are deleted in braces, is TTCA[AGA]TACT. This deletion occurs in a region that is not conserved and is located in the region of interaction with beta-adaptin (Tavtigian 2009). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Based on current evidence, we consider ATM c.3675_3677delAGA to be a variant of uncertain significance.
Ambry Genetics RCV000574499 SCV000660597 uncertain significance Hereditary cancer-predisposing syndrome 2016-04-19 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV001224230 SCV001396414 uncertain significance Ataxia-telangiectasia syndrome 2019-05-10 criteria provided, single submitter clinical testing This variant, c.3675_3677del, results in the deletion of two amino acid(s) and insertion of one amino acid of the ATM protein (p.Gln1225_Asp1226delinsHis), 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 conditions. ClinVar contains an entry for this variant (Variation ID: 422507). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) 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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