ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.746G>T (p.Gly249Val)

dbSNP: rs62846063
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003522935 SCV004336406 uncertain significance Severe neonatal-onset encephalopathy with microcephaly 2023-07-12 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 143665). This variant has not been reported in the literature in individuals affected with MECP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 237 of the MECP2 protein (p.Gly237Val).
RettBASE RCV000133206 SCV000188204 not provided not provided no assertion provided not provided

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