ClinVar Miner

Submissions for variant NM_000399.5(EGR2):c.832G>A (p.Ala278Thr)

gnomAD frequency: 0.00004  dbSNP: rs565355765
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000761723 SCV000621425 uncertain significance not provided 2022-09-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV000761723 SCV000891908 likely benign not provided 2018-05-01 criteria provided, single submitter clinical testing
Invitae RCV001040079 SCV001203634 uncertain significance Charcot-Marie-Tooth disease, type I 2024-01-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 278 of the EGR2 protein (p.Ala278Thr). This variant is present in population databases (rs565355765, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with EGR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 452606). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt EGR2 protein function with a negative predictive value of 80%. 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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