Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001006535 | SCV001166093 | pathogenic | not provided | 2021-06-01 | criteria provided, single submitter | clinical testing | This deletion interval involves exons 3-4 of 31 of MED13L (NM_015335.5; OMIM 608771). Haploinsufficiency of MED13L via pathogenic heterozygous sequence variants and deletions (mostly de novo) causes autosomal dominant intellectual disability and distinctive facial features with or without cardiac defects (MRFACD) (OMIM 616789) (Asadollahi R et al., Eur J Hum Genet. 2013 Oct;21(10):1100-4. PMID: 23403903; van Haelst et al., Eur J Hum Genet. 2015 Jan;23(1):135-8. PMID: 24781760; Adegbola et al., Eur J Hum Genet. 2015 Oct;23(10):1308-17. PMID: 25758992; Yamamoto et al., Am J Med Genet A. 2017 May;173(5):1264-1269. PMID: 28371282; Cafiero et al., Eur J Hum Genet. 2015 Nov;23(11):1499-504. PMID: 25712080; Eur J Med Genet. 2019 Feb;62(2):129-136. PMID: 29959045; Neurogenetics. 2018 May;19(2):93-103. PMID: 29511999). Additionally, heterozygous missense variants of MED13L have been associated with autosomal dominant dextro-looped transposition of the great arteries-1 (OMIM 608808). However, there is evidence of incomplete penetrance for this phenotype (Muncke et al., Circulation 2003;108(23):2843-50, PMID: 14638541). |