ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.157_160del (p.Gly53fs) (rs1603310863)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008256 SCV001168022 pathogenic not provided 2018-07-20 criteria provided, single submitter clinical testing The c.121_124delGGCA pathogenic variant in the MECP2 gene causes a frameshift starting with codon Glycine 41, changes this amino acid to a Serine residue and creates a premature Stop codon at position 83 of the new reading frame, denoted p.Gly41SerfsX83. This pathogenic variant is predicted to cause loss of normal protein function through protein truncation, as the last 446 amino acids are replaced by 82 incorrect amino acids. This variant is not observed in large population cohorts (Lek et al., 2016). Although this pathogenic variant has not been previously reported to our knowledge, its presence is consistent with the diagnosis of Rett syndrome in this individual.

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