ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1021G>A (p.Gly341Ser)

gnomAD frequency: 0.00004  dbSNP: rs201871183
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001518051 SCV001726681 benign Severe neonatal-onset encephalopathy with microcephaly 2023-11-17 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV003380489 SCV004098859 benign Rett syndrome 2023-08-14 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 to the ACMG/AMP Variant Interpretation Guidelines VCEP 2.0, this variant is classified as Benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD is between 0.008% and 0.03% (BS1). The variant is observed in at least 2 individuals with no features of Rett Syndrome (BS2).
RettBASE RCV000133305 SCV000188314 benign not specified 2011-03-29 no assertion criteria provided curation

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