ClinVar Miner

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

dbSNP: rs786205042
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Total submissions: 4
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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 2022-02-03 criteria provided, single submitter clinical testing The MECP2 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001110792.1, and corresponds to NM_004992.3:c.-114_-104del in the primary transcript. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 189770). This variant is also known as c.38_48del11. This premature translational stop signal has been observed in individual(s) with Rett syndrome (PMID: 15857422, 16155192, 17968969, 22213695, 23810759). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). 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. Loss-of-function variants in MECP2 are known to be pathogenic (PMID: 12180070).
OMIM RCV000170288 SCV000032844 pathogenic Rett syndrome 2006-06-01 no assertion criteria provided literature only
RettBASE RCV000170288 SCV000222621 pathogenic Rett syndrome 2013-12-05 no assertion criteria provided curation

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