Submissions for variant NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) (rs140258520)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000168707	SCV000191000	uncertain significance	not specified	2017-04-04	criteria provided, single submitter	clinical testing	The P419S variant has been reported in a female patient diagnosed with Rett syndrome and her unaffected mother (Gauthier et al., 2005). The P419S variant is observed in 1/9303 (0.01%) alleles from individuals of Latino background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P419S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Genetic Services Laboratory, University of Chicago	RCV000168707	SCV000247946	uncertain significance	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Invitae	RCV001088911	SCV000544612	benign	Severe neonatal-onset encephalopathy with microcephaly	2019-12-31	criteria provided, single submitter	clinical testing
Fulgent Genetics,Fulgent Genetics	RCV000766081	SCV000897556	uncertain significance	Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; Mental retardation, X-linked, syndromic 13; Rett syndrome; Autism, susceptibility to, X-linked 3	2018-10-31	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000456515	SCV001150511	uncertain significance	not provided	2018-10-01	criteria provided, single submitter	clinical testing