ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.888_891AAAG[1] (p.Lys298fs) (rs61750256)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816077 SCV000956567 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2019-07-16 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MECP2 gene (p.Lys286Profs*2). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 201 amino acids of the MECP2 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with classical or atypical Rett syndrome (PMID: 15633890, 17387578, Invitae). ClinVar contains an entry for this variant (Variation ID: 143714). A different truncation (p.Pro389*) that lies downstream of this variant has been determined to be pathogenic (PMID: 17089071, 17387578, 19914908, 21982064, 20151026). This suggests that deletion of this region of the MECP2 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
RettBASE RCV000168696 SCV000188262 pathogenic Rett syndrome 2008-02-18 no assertion criteria provided curation

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