ClinVar Miner

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

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Total submissions: 5
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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

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