ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.378-20C>G (rs368684221)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000225668 SCV000282489 benign Rett syndrome 2016-04-14 criteria provided, single submitter clinical testing The c.378-20C>G MECP2 variant involves the alteration of a non-conserved intronic position. This variant is located at a position that is not widely known to affect splicing and 4/5 in silico programs predict no significant effect on splicing. The variant was observed in the large, broad control population, ExAC, with an allele frequency of 0.005% which includes 1 hemizyous occurrence. This frequency exceeds the maximum expected allele frequency for a pathogenic MECP2 variant of 0.00083%, suggesting this is a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant has been classified as a normal variant.

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