ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.105C>G (p.Asp35Glu)

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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 RCV004797644 SCV005419054 likely benign Rett syndrome 2024-10-30 reviewed by expert panel curation The p.Asp23Glu variant in MECP2 (NM_004992.4) is observed in at least 2 unaffected individuals (internal database - Invitae) (BS2). The highest population minor allele frequency of the p.Asp23Glu variant in MECP2 in gnomAD v4.1 is 0.00006532 in the Admixed American population (not sufficient to meet BS1 criteria). In summary, the p.Asp23Glu variant in MECP2 is classified as Likely Benign based on the ACMG/AMP criteria (BS2).
GeneDx RCV003314837 SCV004014141 uncertain significance not provided 2023-01-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003523156 SCV004300789 benign Severe neonatal-onset encephalopathy with microcephaly 2023-08-04 criteria provided, single submitter clinical testing

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