ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1155dup (p.Glu386fs)

dbSNP: rs1557135851
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598988 SCV000710111 pathogenic not provided 2017-11-09 criteria provided, single submitter clinical testing The c.1119dupA variant in the MECP2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1119dupA variant causes a frameshift starting with codon Glutamic acid 374, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 19 of the new reading frame, denoted p.Glu374ArgfsX19. This variant is predicted to cause loss of normal protein function through protein truncation as the last 113 amino acids are lost and replaced with 18 incorrect amino acids. The c.1119dupA variant is not observed in large population cohorts (Lek et al., 2016).

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