ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.884_886AGA[2] (p.Lys297del) (rs1064795918)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480776 SCV000572174 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing The c.890_892delAGA variant in the ATRX gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.890_892delAGA variant causes an in-frame deletion of one amino acid, Lysine 297, denoted p.Lys297del. This amino acid deletion occurs at a position that is conserved in mammals. The c.890_892delAGA variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.890_892delAGA as a variant of uncertain significance.

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