ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1066C>T (p.Arg356Trp)

gnomAD frequency: 0.00006  dbSNP: rs61752361
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Total submissions: 5
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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 RCV000132833 SCV001712011 benign Rett syndrome 2021-03-26 reviewed by expert panel curation The allele frequency of the p.R344W variant in MECP2 is 0.01% in South Asian sub population in gnomAD, which is high enough to be classified as likely benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The p.R344W variant is observed in at least 2 unaffected individuals (internal database) (BS2). In summary, the p.R344W variant in MECP2 is classified as benign based on the ACMG/AMP criteria (BS1, BS2).
Invitae RCV000863677 SCV001004378 likely benign Severe neonatal-onset encephalopathy with microcephaly 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001571972 SCV001796538 likely benign not provided 2020-08-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27884173, 28454995, 28709814, 21940684, 12872250, 22277191, 16708070, 12161600, 17351020)
PreventionGenetics, part of Exact Sciences RCV003895001 SCV004713551 benign MECP2-related condition 2021-07-13 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
RettBASE RCV000132833 SCV000187810 uncertain significance Rett syndrome 2012-09-27 no assertion criteria provided curation

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