Submissions for variant NM_001110792.2(MECP2):c.1198_1203CCACCT[1] (p.Pro402_Pro403del) (rs61753008)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000132938	SCV000190975	benign	not provided	2014-01-22	criteria provided, single submitter	clinical testing	The c.1168_1173delCCACCT variant in the MECP2 gene has been reported previously in girl with Rett syndrome (Djarmati et al., 2007). The deletion causes an in-frame loss of two Proline amino acids at codon 390 and 391, denoted p.Pro390_Pro391del. The c.1168_1173delCCACCT variant is described as a polymorphism in a gene specific mutation database as this variant was reported in an unaffected family member. Additionally, this variant is present in the NHLBI Exome Sequencing Project using alternate transcript numbering and has been observed in the homozygous state in a female and hemizygous in three males. This variant has been observed to be maternally inherited. The variant is found in MECP2 panel(s).
Genetic Services Laboratory,University of Chicago	RCV000169922	SCV000247936	likely benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children	RCV000445582	SCV000537176	likely benign	Rett syndrome	2015-07-07	criteria provided, single submitter	clinical testing
Invitae	RCV001080264	SCV001004809	likely benign	Severe neonatal-onset encephalopathy with microcephaly	2019-10-20	criteria provided, single submitter	clinical testing
RettBASE	RCV000169922	SCV000187919	benign	not specified	2014-02-05	no assertion criteria provided	curation