ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.251C>T (p.Pro84Leu)

gnomAD frequency: 0.00002  dbSNP: rs61754440
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Total submissions: 3
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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 RCV001800450 SCV002047357 likely benign Rett syndrome 2021-10-26 reviewed by expert panel curation The allele frequency of the p.Pro72Leu variant in MECP2 (NM_004992.3) is 0.01338% in the Ashkenazi Jewish sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The p.Pro72Leu variant is observed in at least 1 unaffected individual (internal database - Invitae) (BS2_supporting). In summary, the p.Pro72Leu variant in MECP2 is classified as Likely Benign based on the ACMG/AMP criteria (BS1, BS2_supporting).
Invitae RCV001034292 SCV001197632 likely benign Severe neonatal-onset encephalopathy with microcephaly 2023-11-24 criteria provided, single submitter clinical testing
RettBASE RCV000133032 SCV000188020 uncertain significance not specified 2006-02-03 no assertion criteria provided curation

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