Submissions for variant NM_000399.5(EGR2):c.910GCC[7] (p.Ala309dup)

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Total submissions: 5

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000482520	SCV000564961	uncertain significance	not provided	2017-05-24	criteria provided, single submitter	clinical testing	A variant of uncertain significance has been identified in the EGR2 gene. The c.925_927dupGCC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.925_927dupGCC variant results in an in-frame duplication of a single Alanine residue, denoted p.Ala309dup. However, this duplication occurs at a position that is not conserved, and this duplication is located in a region of the protein where the number of Alanine residues varies within the normal population (NHLBI Exome Sequencing Project). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000546559	SCV000636236	uncertain significance	Charcot-Marie-Tooth disease, type I	2023-12-06	criteria provided, single submitter	clinical testing	This variant, c.925_927dup, results in the insertion of 1 amino acid(s) of the EGR2 protein (p.Ala309dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs753747037, gnomAD 0.03%). This variant has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 32376792). ClinVar contains an entry for this variant (Variation ID: 418176). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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.
Athena Diagnostics	RCV001662462	SCV001879553	benign	not specified	2020-12-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002374877	SCV002686482	likely benign	Inborn genetic diseases	2019-11-19	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity	RCV000482520	SCV003831841	uncertain significance	not provided	2020-10-16	criteria provided, single submitter	clinical testing

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