ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.737C>T (p.Ala246Val)

dbSNP: rs138211345
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000645116 SCV000766858 uncertain significance Severe neonatal-onset encephalopathy with microcephaly 2017-08-17 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 replaces alanine with valine at codon 234 of the MECP2 protein (p.Ala234Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine.

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