ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.23del (p.Ala8fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822577 SCV000963386 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2018-11-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala8Glyfs*36) in the MECP2 gene. It is expected to result in an absent or disrupted protein product. The MECP2 gene has multiple clinically relevant transcripts. The p.Ala8Glyfs*36 variant occurs in alternate transcript NM_001110792.1, which corresponds to position c.-138del in NM_004992.3, the primary transcript listed in the Methods. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MECP2-related disease. Loss-of-function variants in MECP2 are known to be pathogenic (PMID: 12180070). For these reasons, this variant has been classified as Pathogenic.

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