ClinVar Miner

Submissions for variant NM_181672.3(OGT):c.1709C>T (p.Thr570Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003412565 SCV004123252 uncertain significance Intellectual disability, X-linked 106 2023-08-18 criteria provided, single submitter clinical testing The OGT c.1709C>T (p.Thr570Ile) missense variant was identified in a de novo state in a female proband with a phenotype consistent with X-linked intellectual disability (PMID 33504798). This variant is not observed in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. The p.Thr570Ile variant was identified in a de novo state. Based on the available evidence, the c.1709C>T (p.Thr570Ile) variant is classified as a variant of uncertain significance for X-linked intellectual disability.

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