ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.938del (p.Leu313fs)

dbSNP: rs2522066395
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004529333 SCV004103304 pathogenic MECP2-related disorder 2023-03-28 criteria provided, single submitter clinical testing The MECP2 c.902delT variant is predicted to result in a frameshift and premature protein termination (p.Leu301Profs*20). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating it is rare. Frameshift variants in MECP2 are expected to be pathogenic, and several examples immediately flanking this position have been associated with Rett syndrome (see for example, Philippe et al. 2006. PubMed ID: 16473305). This variant is interpreted as pathogenic.

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