ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.658C>T (p.Gln220Ter) (rs61749729)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760380 SCV000890244 pathogenic not provided 2018-08-27 criteria provided, single submitter clinical testing The Q208X variant in the MECP2 gene has been reported previously as de novo in an individual with Rett syndrome (Vacca et al., 2001). This variant is predicted to cause loss of normal protein function through protein truncation, as the last 279 amino acids are lost. The Q208X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q208X as a pathogenic variant.
RettBASE RCV000133181 SCV000188179 pathogenic Rett syndrome 2002-09-05 no assertion criteria provided curation

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