ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1199del (p.Pro400fs)

dbSNP: rs267608339
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001912904 SCV002169406 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2020-12-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. This sequence change creates a premature translational stop signal (p.Pro388Hisfs*21) in the MECP2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 99 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.
GeneDx RCV003228017 SCV003924942 pathogenic not provided 2022-11-21 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 99 amino acids are replaced with 20 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 21982064, 17387578, 20151026, 17089071, 19914908)

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