ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.47_57del (p.Gly16fs) (rs786205042)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000170288 SCV001250620 pathogenic Rett syndrome criteria provided, single submitter clinical testing
Invitae RCV001245569 SCV001418865 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2019-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly16Glufs*22) in the MECP2 gene. It is expected to result in an absent or disrupted protein product. The MECP2 gene has multiple clinically relevant transcripts. The p.Gly16Glufs*22 variant occurs in alternate transcript NM_001110792.1, which corresponds to c.-114_-104del in NM_004992.3, the primary transcript. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be in individuals affected with Rett syndrome (PMID: 16155192, 22213695, 15857422, 23810759, 17968969), including at least one de novo occurance (PMID: 17968969). This variant is also known as c.38_48del11 in the literature. ClinVar contains an entry for this variant (Variation ID: 189770). This variant has been reported to affect MECP2 protein function (PMID: 25644311). For these reasons, this variant has been classified as Pathogenic.
RettBASE RCV000170288 SCV000222621 pathogenic Rett syndrome 2013-12-05 no assertion criteria provided curation

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