ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1197_1302del (p.Pro400fs) (rs1557135140)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144760 SCV000190974 pathogenic not provided 2016-09-07 criteria provided, single submitter clinical testing This deletion of 106 base pairs located in the deletion-prone region at the 3' end of the MECP2 gene. This deletion causes a frameshift starting with codon Proline 388, changes this amino acid to a Histidine residue, and creates a premature Stop codon at position 59 of the new reading frame, denoted p.Pro388HisfsX59. This deletion results in the replacement of the last 99 amino acids of the protein with 59 incorrect amino acids and is predicted to cause loss of normal protein function through protein truncation. This pathogenic variant has not been previously reported to our knowledge, although other large deletions in this region have been identified in patients with classical and atypical Rett syndrome.

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