ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1115C>A (p.Ser372Ter)

dbSNP: rs61752372
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000132847 SCV000282499 pathogenic Rett syndrome 2015-12-16 criteria provided, single submitter clinical testing The c.1079C>A (p.Ser360Ter) variant results in a termination codon predicted to cause a truncation of last 126 amino acids. Truncations downstream of this position have been classified as pathogenic/likely pathogenic by our laboratory. Variant has been previously reported in a patient with Rett syndrome (Buyse et al, 2000) and reported as pathogenic by two reputable databases. It has not been reported in general population from ExAC or NHLBI ESP. Taken together, this variant is classified as Pathogenic.
Centre for Population Genomics, CPG RCV000132847 SCV004232252 pathogenic Rett syndrome 2024-01-17 criteria provided, single submitter curation This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria. Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 3.0, this variant is classified as pathogenic. At least the following criteria are met: Has been observed in at least 2 individuals with phenotypes consistent with MECP2-related disease (PS4_Supporting). PMID 11055898, ClinVar Variation ID:143322 This variant is absent from gnomAD (PM2_Supporting). Predicted to result in loss of function, and LOF is a known mechanism of disease (PVS1).
RettBASE RCV000132847 SCV000187826 pathogenic Rett syndrome 2002-04-10 no assertion criteria provided curation

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