ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.653G>C (p.Gly218Ala)

gnomAD frequency: 0.00009  dbSNP: rs63485860
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV002472327 SCV002769694 benign Rett syndrome 2022-10-11 reviewed by expert panel curation The allele frequency of the p.Gly206Ala variant in MECP2 (NM_004992.3) is 0.008% in the European (non-Finnish) sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The p.Gly206Ala variant in MECP2 is observed in at least 2 unaffected individuals (PMID 17427193, internal database - GeneDx) (BS2). The p.Gly206Ala variant is found in at least 3 patients with an alternate molecular basis of disease (internal database - GeneDx; internal database - Invitae) (BP5_strong). In summary, the p.Gly206Ala variant in MECP2 is classified as Benign based on the ACMG/AMP criteria (BS1, BS2, BP5_strong).
Invitae RCV000457783 SCV000544615 benign Severe neonatal-onset encephalopathy with microcephaly 2024-01-03 criteria provided, single submitter clinical testing
GeneDx RCV001711300 SCV000568377 likely benign not provided 2018-01-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17427193, 26350204)
RettBASE RCV000133178 SCV000188176 uncertain significance Autism, susceptibility to, X-linked 3 2007-11-01 no assertion criteria provided curation

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