ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1134CCA[1] (p.His383_His384del)

dbSNP: rs61752381
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Total submissions: 4
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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 RCV000590905 SCV002540689 likely benign Rett syndrome 2022-02-18 reviewed by expert panel curation The p.His371_His372del variant in MECP2 (NM_004992.3) is observed in 2 unaffected individuals (PMID: 29961512) (BS2). The p.His371_His372del variant is found in 2 patients with an alternate molecular basis of disease (PMID 29961512, GeneDx internal database) (BP5). In summary, the p.His371_His372del variant in MECP2 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP5).
GeneDx RCV001704062 SCV000190971 likely benign not provided 2018-07-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29961512)
Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN) RCV000590905 SCV000700177 benign Rett syndrome criteria provided, single submitter clinical testing
Invitae RCV003638631 SCV004472023 uncertain significance Severe neonatal-onset encephalopathy with microcephaly 2022-12-14 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 156614). This variant has been observed in individual(s) with epilepsy and developmental delay (PMID: 29961512). This variant is present in population databases (rs587783093, gnomAD 0.01%). This variant, c.1101_1106del, results in the deletion of 2 amino acid(s) of the MECP2 protein (p.His371_His372del), but otherwise preserves the integrity of the reading frame.

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