ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.6_8CGC[3] (p.Ala6_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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173210 SCV000224305 likely benign not specified 2015-10-09 criteria provided, single submitter clinical testing
Invitae RCV000807467 SCV000947520 uncertain significance Severe neonatal-onset encephalopathy with microcephaly 2019-02-14 criteria provided, single submitter clinical testing This variant results in the deletion of 3 amino acids of the MECP2 protein (p.Ala6_Ala8del), but otherwise preserves the integrity of the reading frame. The MECP2 gene has multiple clinically relevant isoforms. The c.15_23delCGCCGCCGC variant occurs in alternate transcript NM_001110792.1, which corresponds to position c.-146_-138del in NM_004992.3, the primary transcript listed in the Methods. This variant is present in population databases (rs782408430, ExAC 0.08%). This variant has not been reported in the literature in individuals with MECP2-related disease. ClinVar contains an entry for this variant (Variation ID: 193163). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) 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.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000678239 SCV000804265 uncertain significance not provided 2015-04-03 no assertion criteria provided clinical testing

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