ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1200_1208del (p.Pro401_Pro403del)

dbSNP: rs267608604
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208707 SCV001380112 uncertain significance Severe neonatal-onset encephalopathy with microcephaly 2021-09-02 criteria provided, single submitter clinical testing This variant, c.1164_1172del, results in the deletion of 3 amino acid(s) of the MECP2 protein (p.Pro389_Pro391del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs267608604, ExAC 0.02%), including at least one homozygous and/or hemizygous individual. This variant has been observed in individual(s) with Rett syndrome. In addition, a different variant (c.1158_1166del) giving rise to the same protein effect observed here (p.Pro389_Pro391del) has been observed in an individual affected with Rett syndrome (PMID: 11055898, 19914908). ClinVar contains an entry for this variant (Variation ID: 143404). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
RettBASE RCV000132930 SCV000187911 uncertain significance Rett syndrome 2002-04-10 no assertion criteria provided curation

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