ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.52G>A (p.Glu18Lys) (rs1234894476)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624625 SCV000742661 uncertain significance Inborn genetic diseases 2017-07-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Integrated Genetics/Laboratory Corporation of America RCV000781520 SCV000919613 uncertain significance not specified 2018-02-26 criteria provided, single submitter clinical testing Variant summary: MECP2 c.-109G>A is located in the untranslated mRNA region upstream of the initiation codon. The variant was absent in 25723 control chromosomes (ExAC), though control data is limited because of the distance of the variant from the coding region. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.-109G>A in individuals affected with Rett Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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