ClinVar Miner

Submissions for variant GRCh38/hg38 Xq28(chrX:154895862-155336084)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV004555194 SCV005044138 pathogenic Chromosome Xq28 duplication syndrome 2022-09-02 criteria provided, single submitter clinical testing Xq28 duplication syndrome (Int22h1/Int22h2 mediated) is a recurrent duplication syndrome, and has been observed in more than 30 individuals to date (for review [PMID:34199727, 26962617, 32112660, 25927380, 35595445]). The minimal duplication identified here contains 7 OMIM associated genes, including a partial duplication of disease associated gene F8, and full duplication of OMIM disease associated genes RAB39B and CLIC2 which are thought to be responsible for the cognitive and neurobehavioral manifestations of Xq28 duplication syndrome, Int22h1/Int22h2 mediated [GeneReviews; PMID: 26962617]. The Xq28 recurrent region (int22h1/int22h2-flanked) including RAB39B has been curated by the Clinical Genome Resource (ClinGen) Dosage Sensitivity group to have a Triplosensitivity score of 3 (Sufficient evidence for Triplosensitivity; https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-37494). The inherited Xq28 duplication identified here is reported as Pathogenic.

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