ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1371G>A (p.Thr457=)

gnomAD frequency: 0.00256  dbSNP: rs3027927
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081199 SCV000113107 benign not specified 2014-04-17 criteria provided, single submitter clinical testing
GeneDx RCV000081199 SCV000170236 benign not specified 2013-02-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000081199 SCV000247949 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV001085261 SCV000288786 benign Severe neonatal-onset encephalopathy with microcephaly 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712281 SCV000842731 benign not provided 2017-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719389 SCV000850255 benign History of neurodevelopmental disorder 2016-10-05 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
CeGaT Center for Human Genetics Tuebingen RCV000712281 SCV001150508 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000712281 SCV002049700 benign not provided 2021-08-09 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV003380414 SCV004098857 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 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). The variant is observed in at least 2 individuals with no features of Rett Syndrome (BS2). 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).
RettBASE RCV000081199 SCV000187978 benign not specified 2013-12-05 no assertion criteria provided curation

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