ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.311del (p.Gly104fs) (rs267608446)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144752 SCV000190965 pathogenic not provided 2014-08-12 criteria provided, single submitter clinical testing The c.275delG mutation in the MECP2 gene causes a frameshift starting with codon Glycine 92, changes this amino acid to an Aspartic acid residue and creates a premature Stop codon at position 33 of the new reading frame, denoted p.Gly92AspfsX33. This mutation is predicted to cause loss of normal protein function through protein truncation, as the last 395 amino acids of the MECP2 protein are replaced with 32 aberrant amino acids. The variant is found in INFANT-EPI panel(s).

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