ClinVar Miner

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

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Total submissions: 2
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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 Lines of evidence used in support of classification: Insufficient or conflicting evidence

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