ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.-99+2T>G (rs1557150841)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598684 SCV000710007 pathogenic not provided 2018-02-12 criteria provided, single submitter clinical testing Note that the c.62+2T>G variant is present in the alternate transcript of the MECP2 gene (NM_001110792.1), referred to as MECP2_e2 which includes exon 1 and is highly expressed in the brain. The c.62+2T>G variant, present in an alternate transcript of the MECP2 gene, has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 1, and is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. However, in the absence of RNA/functional studies, the actual effect of c.62+2T>G in this individual is unknown. The c.62+2T>G variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.62+2T>G as a pathogenic variant, consistent with the clinical features reported in this individual.

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