ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) (rs267608329)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479970 SCV000571773 likely pathogenic not provided 2017-08-29 criteria provided, single submitter clinical testing The c.1155_1200del46 variant in the MECP2 gene (referred to as either 1149del46 or 1155del46 due to the use of alternate nomenclature) was previously identified in two unrelated females with Rett syndrome; however, in both published cases the c.1155_1200del46 variant was likely part of a complex allele, as one of the patients also harbored an in-frame insertion/deletion while the other had a second frameshift variant in MECP2 (Lee et al., 2001; Weaving et al., 2003). The c.1155_1200del46 variant has been reported as an isolated pathogenic variant in two unrelated females in RettBASE; however, no additional information is available regarding the phenotype or family history (Christodoulou et al., 2003). The c.1155_1200del46 variant causes a frameshift starting with codon Leucine 386, changes this amino acid to an Alanine residue, and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Leu386AlafsX8. This variant is predicted to cause loss of normal protein function through protein truncation, as the last 101 amino acids of the protein are replaced by seven incorrect amino acids. The c.1155_1200del46 variant was not observed in approximately 6460 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1155_1200del46 as a likely pathogenic variant.
RettBASE RCV000132886 SCV000187866 pathogenic Rett syndrome 2008-01-21 no assertion criteria provided curation

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