ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.533C>G (p.Ser178Cys) (rs782314807)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585605 SCV000693372 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780398 SCV000917618 uncertain significance not specified 2018-05-11 criteria provided, single submitter clinical testing Variant summary: MECP2 c.533C>G (p.Ser178Cys) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.7e-05 in 178535 control chromosomes. The observed variant frequency is approximately 2 fold above the estimated maximal expected allele frequency for a pathogenic variant in MECP2 causing Rett Syndrome phenotype (8.3e-06), suggesting that the variant is benign, however the small number of occurrences (n=3) is too small to definitively classify this variant as benign. To our knowledge, no occurrence of c.533C>G in individuals affected with Rett Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as a VUS.

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