ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.550C>T (p.Pro184Ser)

dbSNP: rs61748426
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002515930 SCV002967146 uncertain significance Severe neonatal-onset encephalopathy with microcephaly 2023-08-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 172 of the MECP2 protein (p.Pro172Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of MECP2-related conditions (PMID: 17084570). ClinVar contains an entry for this variant (Variation ID: 143606). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
RettBASE RCV000133146 SCV000188138 uncertain significance X-linked intellectual disability-psychosis-macroorchidism syndrome 2010-03-10 no assertion criteria provided curation

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