ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.732del (p.Lys245fs) (rs61749741)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233179 SCV001405762 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2019-07-31 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MECP2 gene (p.Lys233Argfs*15). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 254 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 Rett syndrome (PMID:11462237, 16225173, 16473305). ClinVar contains an entry for this variant (Variation ID: 143664). This variant disrupts the C-terminus of the MECP2 protein. Other variant(s) that disrupt this region (p.Pro389*) have been determined to be pathogenic (PMID: 17089071, 17387578, 19914908, 21982064, 20151026). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
RettBASE RCV000133205 SCV000188203 pathogenic Rett syndrome 2010-12-03 no assertion criteria provided curation

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