ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.895G>C (p.Ala299Pro)

gnomAD frequency: 0.00002  dbSNP: rs61750257
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Total submissions: 4
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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 RCV000133258 SCV002047349 likely benign Rett syndrome 2021-10-28 reviewed by expert panel curation The p.Ala287Pro variant in MECP2 (NM_004992.3) is observed in at least 2 unaffected individuals (internal database - GeneDx, internal database - Baylor) (BS2). The p.Ala287Pro variant is observed in the MECP2 gene where a second pathogenic variant in the same gene is present in the patient (internal database - GeneDx) (BP2). The p.Ala287Pro variant is found in a patient with an alternate molecular basis of disease (internal database - Baylor) (BP5). The p.Ala287Pro variant in MECP2 is present in gnomAD v2.1.1 at a frequency of 0.001638% (no criteria met). In summary, the p.Ala287Pro variant in MECP2 is classified as Likely Benign based on the ACMG/AMP criteria (BS2, BP2, BP5).
GeneDx RCV000417939 SCV000525474 likely benign not specified 2016-03-03 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.
Invitae RCV000794396 SCV000933801 benign Severe neonatal-onset encephalopathy with microcephaly 2023-12-30 criteria provided, single submitter clinical testing
RettBASE RCV000133258 SCV000188264 uncertain significance Rett syndrome 2002-04-10 no assertion criteria provided curation

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