ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.722C>T (p.Ser241Leu)

gnomAD frequency: 0.00019  dbSNP: rs61749739
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000133200 SCV000247986 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV001719908 SCV000513562 likely benign not provided 2020-10-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17387578, 12872250, 12111644, 22615490, 17046689, 23912219, 10767337)
Invitae RCV000460836 SCV000556740 benign Severe neonatal-onset encephalopathy with microcephaly 2024-01-30 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV003990996 SCV004808983 benign Rett syndrome 2024-03-13 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 benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD is higher than the 0.03% threshold defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders VCEP 3.0 (BA1).
RettBASE RCV000133200 SCV000188198 benign not specified 2011-02-15 no assertion criteria provided curation

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