ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1173C>T (p.Pro391=) (rs61752980)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081192 SCV000113100 benign not specified 2013-03-13 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587649 SCV000698529 benign not provided 2016-12-26 criteria provided, single submitter clinical testing Variant summary: The MECP2 c.1137C>T (p.Pro379Pro) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 29/80063 control chromosomes, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.0005728 (25/43643). This frequency is about 69 times the estimated maximal expected allele frequency of a pathogenic MECP2 variant (0.0000083), suggesting this is likely a benign polymorphism found primarily in the populations of European (Non-Finnish) origin. In addition, multiple clinical diagnostic laboratories have classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals in literature, nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as Benign.
Ambry Genetics RCV000720865 SCV000851749 benign History of neurodevelopmental disorder 2017-05-30 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV001087585 SCV001004157 benign Severe neonatal-onset encephalopathy with microcephaly 2019-12-31 criteria provided, single submitter clinical testing
RettBASE RCV000081192 SCV000187849 benign not specified 2002-12-20 no assertion criteria provided curation

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