ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.855G>T (p.Gly285=) (rs61750245)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics RCV000172862 SCV000223844 benign Rett syndrome criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000172862 SCV000282498 benign Rett syndrome 2015-12-01 criteria provided, single submitter clinical testing The variant of interest causes a synonymous change with 3/5 in silico programs predicting no significant effect on splicing, although these predictions have yet to be functionally assessed. The variant of interest was observed in a large, broad control population, ExAC, with an allele frequency of 48/85990 (1/1791 including 18 hemizygotes), which exceeds the maximum expected allele frequency for a pathogenic MECP2 variant. The variant of interest has been reported in affected individuals via publications and reputable clinical laboratories/databases with a classification of "benign/polymorphism." Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as Benign.
Invitae RCV001079813 SCV000645678 benign Severe neonatal-onset encephalopathy with microcephaly 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712286 SCV000842738 benign not provided 2018-07-26 criteria provided, single submitter clinical testing
RettBASE RCV000133248 SCV000188252 benign not specified 2013-12-05 no assertion criteria provided curation

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