ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.550C>A (p.Pro184Thr)

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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 RCV001193434 SCV001362255 likely benign not specified 2019-02-07 criteria provided, single submitter clinical testing Variant summary: MECP2 c.514C>A (p.Pro172Thr) 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 1.1e-05 in 178447 control chromosomes (gnomAD). 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.514C>A in individuals affected with Rett Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. The variant was reported to be found in an internal unaffected male sample, providing supporting evidence for a benign role. 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 likely benign.

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