ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1275C>T (p.Cys425=)

gnomAD frequency: 0.00001  dbSNP: rs61753967
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000980868 SCV001128828 likely benign Severe neonatal-onset encephalopathy with microcephaly 2024-11-24 criteria provided, single submitter clinical testing
GeneDx RCV001675631 SCV001895237 likely benign not provided 2019-11-14 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV003990978 SCV004809025 benign Rett syndrome 2024-03-14 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 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 V4 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 RCV000132976 SCV000187960 benign not specified 2005-12-08 no assertion criteria provided curation

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