ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1344_1345del (p.Gln449fs) (rs61753972)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000132985 SCV000778314 pathogenic Rett syndrome 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV000690876 SCV000818605 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2018-06-12 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MECP2 gene (p.Gln437Alafs*49). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 50 amino acids of the MECP2 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in at least two individuals affected with Rett syndrome (PMID: 11055898, Invitae). This variant is also known as c.1308delTC and c.1308_1309del2 in the literature. ClinVar contains an entry for this variant (Variation ID: 143457). Many different truncations that are downstream of this variant have been reported in individuals affected with Rett syndrome (PMID: 23696494, 10814718, 19914908, 16473305). This suggests that deletion of this region of the MECP2 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
RettBASE RCV000132985 SCV000187969 pathogenic Rett syndrome 2002-04-10 no assertion criteria provided curation

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