ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1328dup (p.Glu444fs)

dbSNP: rs2148658967
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001956409 SCV002245929 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2021-02-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Glu432Glyfs*4) in the MECP2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 55 amino acid(s) of the MECP2 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MECP2-related conditions. This variant disrupts the C-terminus of the MECP2 protein. Other variant(s) that disrupt this region (p.Tyr450Leufs*37) have been determined to be pathogenic (Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease.

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