Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081192 | SCV000113100 | benign | not specified | 2013-03-13 | criteria provided, single submitter | clinical testing | |
Women's Health and 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 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000587649 | SCV001939582 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Centre for Population Genomics, |
RCV003380411 | SCV004098757 | benign | Rett syndrome | 2023-08-14 | criteria provided, single submitter | curation | This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria.Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 2.0, this variant is classified as benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD is higher than the 0.03% threshold defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders VCEP 2.0 (BA1). Synonymous or intronic variant outside donor and acceptor splice regions where splicing prediction algorithms do not support significant splicing alteration (spliceAI score <=0.1) (BP4, BP7). |
Ce |
RCV000587649 | SCV004165054 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | MECP2: BP4, BP7 |
Prevention |
RCV003915074 | SCV004734278 | likely benign | MECP2-related condition | 2019-03-07 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Rett |
RCV000081192 | SCV000187849 | benign | not specified | 2002-12-20 | no assertion criteria provided | curation |