ClinVar Miner

Submissions for variant GRCh37/hg19 Xp21.2(chrX:29357723-29545322)x1

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004819295 SCV005439895 likely pathogenic not provided 2023-09-23 criteria provided, single submitter clinical testing This loss involves an intragenic portion of IL1RAPL1 (OMIM 300206; NM_014271.4), which is expected to result in a reading frame shift. Haploinsufficiency of IL1RAPL1 is associated with X-linked intellectual developmental disorder-21 (XLID21; OMIM 300143; ISCA-35275; Behnecke 2011, Whibley 2010). Therefore, this copy number variant is classified as likely pathogenic. References: Behnecke et al., Am J Med Genet 2011 Feb;155A(2):372-9 PMID: 21271657; Whibley et al., Am J Hum Genet. 2010 Aug 13;87(2):173-88. PMID: 20655035

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