ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)

gnomAD frequency: 0.00016  dbSNP: rs267608572
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV000225614 SCV002047343 benign Rett syndrome 2021-12-13 reviewed by expert panel curation The allele frequency of the p.Val380Met (NM_004992.3) variant in MECP2 is 0.138% in Latino sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). In summary, the p.Val380Met variant in MECP2 is classified as benign based on the ACMG/AMP criteria (BA1).
GeneDx RCV000724404 SCV000190993 likely benign not provided 2020-08-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20116947, 19189931, 26148505)
Eurofins NTD LLC (GA) RCV000724404 SCV000230274 uncertain significance not provided 2015-01-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000225614 SCV000282500 likely benign Rett syndrome 2015-09-11 criteria provided, single submitter clinical testing
Invitae RCV001087462 SCV000645652 benign Severe neonatal-onset encephalopathy with microcephaly 2021-12-14 criteria provided, single submitter clinical testing
RettBASE RCV000169942 SCV000187850 uncertain significance X-linked intellectual disability-psychosis-macroorchidism syndrome 2010-07-13 no assertion criteria provided curation

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