ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1193_1198del (p.Leu398_Pro399del)

dbSNP: rs1569548334
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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 RCV004797618 SCV005419052 likely benign Rett syndrome 2024-10-30 reviewed by expert panel curation The p.Leu386_Pro387del variant in MECP2 (NM_004992.4) is observed in at least 2 unaffected individuals (internal database - Ambry, internal database - Invitae) (BS2). The highest population minor allele frequency of the p.Leu386_Pro387del variant in MECP2 in gnomAD v4.1 is 0.000001123 in the European (non-Finnish) population (not sufficient to meet BS1 criteria). In summary, the p.Leu386_Pro387del variant in MECP2 is classified as Likely Benign based on the ACMG/AMP criteria (BS2).
Ambry Genetics RCV000720619 SCV000851498 uncertain significance History of neurodevelopmental disorder 2017-01-12 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Labcorp Genetics (formerly Invitae), Labcorp RCV003523014 SCV004282518 likely benign Severe neonatal-onset encephalopathy with microcephaly 2023-07-21 criteria provided, single submitter clinical testing

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