ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs) (rs1557135353)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144758 SCV000190972 pathogenic not provided 2013-12-11 criteria provided, single submitter clinical testing The c.1129_1198del70 mutation results in a deletion of 70 base pairs located in the deletion-prone region at the 3' end of the MECP2 gene. This deletion causes a frameshift starting with codon Lysine 377, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Lys377ProfsX9. This deletion results in the replacement of the last 110 amino acids of the protein with 8 aberrant amino acids and is predicted to cause loss of normal protein function through protein truncation. This mutation has not been reported previously to our knowledge, although large deletions in this region of the gene have been identified in patients with classic and atypical Rett syndrome. The variant is found in INFANT-EPI panel(s).
Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN) RCV000590874 SCV000700176 benign Rett syndrome criteria provided, single submitter clinical testing

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