ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.670del (p.Val224fs)

dbSNP: rs2065950974
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060527 SCV001225221 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2019-07-31 criteria provided, single submitter clinical testing This variant disrupts the C-terminus of the MECP2 protein. Other variant(s) that disrupt this region (p.Arg255*) have been determined to be pathogenic (PMID: 23270700, 1241840, 17089071, 10508514, 25634563). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with MECP2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the MECP2 gene (p.Val212Serfs*36). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 275 amino acids of the MECP2 protein. For these reasons, this variant has been classified as Pathogenic.

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