ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1245del (p.Glu416fs) (rs1064796837)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480265 SCV000573957 pathogenic not provided 2017-06-30 criteria provided, single submitter clinical testing The c.1209delT variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1209delT variant causes a frameshift starting with codon Glutamic acid 404, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Glu404SerfsX5. This variant is predicted to cause loss of normal protein function through protein truncation, as the last 83 amino acids are replaced with 4 incorrect amino acids. Furthermore, the c.1209delT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Based on currently available evidence, c.1209delT is a pathogenic variant.

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