ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly) (rs201314910)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000132865 SCV001142083 uncertain significance Rett syndrome 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001245011 SCV001418271 uncertain significance Severe neonatal-onset encephalopathy with microcephaly 2019-11-11 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 378 of the MECP2 protein (p.Ala378Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine. This variant is present in population databases (rs201314910, ExAC 0.01%). This variant has been observed in individual(s) with clinical features of, or diagnosis of, Rett syndrome (PMID: 26984561, 16473305, 11960578, 20031356). ClinVar contains an entry for this variant (Variation ID: 143340). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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 RCV000132865 SCV000187845 uncertain significance Rett syndrome 2010-07-13 no assertion criteria provided curation

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