ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1196_1202del (p.Pro399fs) (rs267608332)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414136 SCV000491181 pathogenic not provided 2016-10-14 criteria provided, single submitter clinical testing The c.1160_1166delCCCCACC pathogenic variant in the MECP2 gene has been reported previously in association with Rett syndrome (Hadzsiev et al., 2011; Karteszi et al., 2004; Monnerat et al., 2010). The deletion causes a frameshift starting with codon Proline 387, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 20 of the new reading frame, denoted p.P387LfsX20. The c.1160_1166delCCCCACC variant is predicted to cause loss of normal protein function through protein truncation, as the last 100 amino acids are replaced with 19 incorrect ones. Additionally, this variant was not observed in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
RettBASE RCV000132909 SCV000187890 pathogenic Rett syndrome 2011-11-01 no assertion criteria provided curation

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