ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1293C>T (p.Pro431=)

gnomAD frequency: 0.00015  dbSNP: rs199540575
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002536778 SCV001009245 benign Severe neonatal-onset encephalopathy with microcephaly 2024-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501274 SCV002807794 likely benign Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome; Autism, susceptibility to, X-linked 3 2022-01-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538263 SCV004712922 likely benign MECP2-related disorder 2022-06-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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