ClinVar Miner

Submissions for variant NM_006265.2(RAD21):c.1774_1776del (p.Gln592del) (rs1563686762)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bondeson Group,Uppsala University RCV000680272 SCV000747141 likely pathogenic Cornelia de Lange syndrome 4 2018-04-25 criteria provided, single submitter research The structural model predicts that deletion of Gln592 results in rearrangement of the surrounding residues. In particular, a significant positional change of Lys591, now located in the space previously occupied by Gln592. As a result, the previous contact between Lys591 and the SMC1A residues Glu1191 and Glu1192 is discontinued, causing significant changes in the RAD21-SMC1A interface.

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