ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del)

dbSNP: rs398123566
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Total submissions: 6
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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 RCV002472368 SCV002769740 benign Rett syndrome 2022-12-09 reviewed by expert panel curation The allele frequency of the c.-146_-138del variant in MECP2 (NM_004992.3) is 0.036% in South Asian sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). The c.-146_-138del variant is observed in 1 unaffected individual (RettBASE) (BS2_Supporting). In summary, the c.-146_-138del variant in MECP2 is classified as Benign based on the ACMG/AMP criteria (BA1, BS2_Supporting).
Eurofins Ntd Llc (ga) RCV000173210 SCV000224305 likely benign not specified 2015-10-09 criteria provided, single submitter clinical testing
Invitae RCV000807467 SCV000947520 likely benign Severe neonatal-onset encephalopathy with microcephaly 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000678239 SCV001874746 uncertain significance not provided 2021-07-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In frame deletion of 3 amino acids in a repetitive region with no known function
PreventionGenetics, part of Exact Sciences RCV003955009 SCV004775580 likely benign MECP2-related condition 2023-09-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000678239 SCV000804265 uncertain significance not provided 2015-04-03 no assertion criteria provided clinical testing

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