Submissions for variant NM_018127.7(ELAC2):c.520G>A (p.Glu174Lys)

gnomAD frequency: 0.00017  dbSNP: rs374954001

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001048446	SCV001212453	uncertain significance	Combined oxidative phosphorylation defect type 17	2022-10-13	criteria provided, single submitter	clinical testing	This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 174 of the ELAC2 protein (p.Glu174Lys). This variant is present in population databases (rs374954001, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with ELAC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 845391). 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 ELAC2 protein function. 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.
Fulgent Genetics, Fulgent Genetics	RCV002505590	SCV002816263	uncertain significance	Prostate cancer, hereditary, 2; Combined oxidative phosphorylation defect type 17	2021-09-08	criteria provided, single submitter	clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University	RCV003153908	SCV003843853	benign	Ovarian cancer	2022-01-01	criteria provided, single submitter	clinical testing