ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.331dup (p.Thr111fs) (rs1603310755)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008640 SCV001168414 pathogenic not provided 2019-03-18 criteria provided, single submitter clinical testing The c.295dupA variant in the MECP2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.295dupA variant causes a frameshift starting with codon Threonine 99, changes this amino acid to an Asparagine residue, and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Thr99AsnfsX4. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.295dupA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.295dupA as a pathogenic variant.
GenomeConnect, ClinGen RCV001249299 SCV001423257 not provided Rett syndrome no assertion provided phenotyping only Variant interpretted as Pathogenic and reported on 03-21-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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