ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.138del (p.Asp46fs)

dbSNP: rs1557137983
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519737 SCV000619620 pathogenic not provided 2017-08-01 criteria provided, single submitter clinical testing The c.102delT variant in the MECP2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.102delT variant causes a frameshift starting with codon Aspartic acid 34, changes this amino acid to a Glutamic acid residue, and creates a premature Stop codon at position 91 of the new reading frame, denoted p.Asp34GlufsX91. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.102delT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.102delT as a pathogenic variant.

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