ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs) (rs267608382)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000132871 SCV001168944 pathogenic not provided 2018-11-07 criteria provided, single submitter clinical testing The c.1138_1163del26 variant in the MECP2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1138_1163del26 variant causes a frameshift starting with codon Valine 380, changes this amino acid to a Threonine residue, and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Val380ThrfsX4. This variant is predicted to cause loss of normal protein function through protein truncation as the last 107 amino acids of the protein are lost and replaced with 3 incorrect amino acids. The c.1138_1163del26 variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1138_1163del26 as a pathogenic variant.
RettBASE RCV000132871 SCV000187851 not provided not provided no assertion provided not provided

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