ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser)

gnomAD frequency: 0.00002  dbSNP: rs786204313
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000168699 SCV000595751 uncertain significance not specified 2017-05-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000766082 SCV000897557 uncertain significance Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome; Autism, susceptibility to, X-linked 3 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001850385 SCV002143571 uncertain significance Severe neonatal-onset encephalopathy with microcephaly 2023-10-06 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 338 of the MECP2 protein (p.Thr338Ser). 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: 188500). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MECP2 protein function. 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.

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