ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.583G>C (p.Gly195Arg)

gnomAD frequency: 0.00001  dbSNP: rs61749706
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Population Genomics, CPG RCV003990991 SCV004808949 likely benign Rett syndrome 2024-03-26 criteria provided, single submitter curation This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria. Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 3.0, this variant is classified as likely benign. At least the following criteria are met: The variant is observed in at least 1 individual with no features of Rett Syndrome (BS2_Supporting, PMID: 16763963).
RettBASE RCV000133158 SCV000188150 benign not specified 2010-03-10 no assertion criteria provided curation
PreventionGenetics, part of Exact Sciences RCV004734686 SCV005341128 uncertain significance MECP2-related disorder 2024-03-11 no assertion criteria provided clinical testing The MECP2 c.547G>C variant is predicted to result in the amino acid substitution p.Gly183Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0012% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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