Submissions for variant NM_001110792.2(MECP2):c.563C>A (p.Pro188His)

dbSNP: rs61749701

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel	RCV002472369	SCV002769741	likely benign	Rett syndrome	2022-12-09	reviewed by expert panel	curation	The allele frequency of the p.Pro176His variant in MECP2 (NM_004992.3) is 0.022% in Other sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The p.Pro176His variant is observed in 1 unaffected individual (internal database) (BS2_supporting). In summary, the p.Pro176His variant in MECP2 is classified as Likely Benign based on the ACMG/AMP criteria (BA1, BS2_supporting).
Eurofins Ntd Llc (ga)	RCV000678233	SCV000230252	uncertain significance	not provided	2014-08-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317047	SCV000850385	likely benign	Inborn genetic diseases	2017-05-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV001472971	SCV001677114	likely benign	Severe neonatal-onset encephalopathy with microcephaly	2023-11-05	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000678233	SCV000804253	uncertain significance	not provided	2015-04-03	no assertion criteria provided	clinical testing