ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.6_8CGC[4] (p.Ala7_Ala8del) (rs398123566)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144800 SCV000191025 likely benign not specified 2017-10-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000701456 SCV000830257 uncertain significance Severe neonatal-onset encephalopathy with microcephaly 2017-07-18 criteria provided, single submitter clinical testing This sequence change results in the deletion of 2 amino acids from the MECP2 protein (p.Ala7_Ala8del) but otherwise preserves the integrity of the reading frame. The MECP2 gene has multiple clinically relevant transcripts. The p.Ala7_Ala8del variant occurs in alternate transcript NM_001110792.1, which corresponds to position c.-143_-138del in NM_004992.3, the primary transcript listed in the Methods. This variant is present in population databases (rs587783129, ExAC 0.006%), including one hemizygous individual. This variant has been reported in an individual affected with intellectual disability (PMID: 17171659). This variant is also known as del[GCC]2 in the literature. ClinVar contains an entry for this variant (Variation ID: 156657). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
RettBASE RCV000170277 SCV000222609 uncertain significance Mental retardation, X-linked, syndromic 13 2007-11-01 no assertion criteria provided curation

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