ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala) (rs398124408)

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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 RCV000082237 SCV000114186 uncertain significance not provided 2013-07-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395808 SCV000478969 uncertain significance Kleefstra syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000395808 SCV000814350 uncertain significance Kleefstra syndrome 1 2018-04-04 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with alanine at codon 1283 of the EHMT1 protein (p.Glu1283Ala). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and alanine. This variant is present in population databases (rs398124408, ExAC 0.03%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with EHMT1-related disease. ClinVar contains an entry for this variant (Variation ID: 96161). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; 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.

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