ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.855del (p.Ser286fs) (rs267608530)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000133249 SCV000491182 pathogenic not provided 2017-08-18 criteria provided, single submitter clinical testing The confirmed de novo c.819delG pathogenic variant in the MECP2 gene was previously identified in a patient with Rett syndrome (Milunsky et al., 2001). The c.819delG variant causes a frameshift starting with codon Serine 274, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 15 of the new reading frame, denoted p.Ser274ValfsX15. This variant is predicted to cause loss of normal protein function through protein truncation, as the last 213 amino acids are replaced by 14 incorrect amino acids. The c.819delG variant was not observed in approximately 6450 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.819delG as a pathogenic variant.
RettBASE RCV000133249 SCV000188253 pathogenic not provided 2010-07-13 no assertion criteria provided curation

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