ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.49G>A (p.Glu17Lys)

dbSNP: rs786205046
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Population Genomics, CPG RCV003483558 SCV004232220 uncertain significance Rett syndrome 2024-01-15 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 a variant of uncertain significance. At least the following criteria are met: The variant is observed in at least 1 individual with no features of Rett Syndrome (BS2_Supporting).
RettBASE RCV000170292 SCV000222625 uncertain significance X-linked intellectual disability-psychosis-macroorchidism syndrome 2007-11-01 no assertion criteria provided curation

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