ClinVar Miner

Submissions for variant GRCh38/hg38 12q12-13.11(chr12:45299856-46290196)x1

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Cytogenomique, Chu Angers RCV004812527 SCV005420227 pathogenic Coffin-Siris syndrome 6 2024-12-13 no assertion criteria provided clinical testing Demonstration of a 990 kb interstitial deletion by Affymetrix Cytoscan encompassing four OMIM genes: ARID2 (609539), associated with Coffin-Siris syndrome 6 (#617808); SCAF11 (603668); SLC38A1 (608490); and exons 2 to 20 of ANO6 (608663). This rearrangement is absent from the population databases consulted (DGV, gnomAD v4). Parental segregation analysis indicates maternal inheritance, with the mother reported as symptomatic. ARID2 is known to be haploinsufficient, with a LOEUF score of 0.22 and a pLI score of 1.00. Consequently, this deletion represents a pathogenic rearrangement contributing to the patient's phenotype.

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