Submissions for variant NM_001110792.2(MECP2):c.44G>A (p.Gly15Glu)

gnomAD frequency: 0.00001  dbSNP: rs1333935838

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000606190	SCV000726005	likely benign	not specified	2018-01-02	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV005091704	SCV005800110	uncertain significance	Severe neonatal-onset encephalopathy with microcephaly	2024-08-31	criteria provided, single submitter	clinical testing	This variant occurs in a non-coding region of the MECP2 gene. It does not change the encoded amino acid sequence of the MECP2 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MECP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 514291). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.