ClinVar Miner

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

dbSNP: rs1603341359
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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 2018-11-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MECP2 are known to be pathogenic (PMID: 12180070). This variant has not been reported in the literature in individuals with MECP2-related disease. This variant is not present in population databases (ExAC no frequency). 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.

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