Submissions for variant NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr)

gnomAD frequency: 0.02886  dbSNP: rs5030739

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000429965	SCV000517947	benign	not specified	2016-01-20	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000429965	SCV000539091	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency - variant associated with prostate cancer.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000477360	SCV000559553	benign	Combined oxidative phosphorylation defect type 17	2025-02-03	criteria provided, single submitter	clinical testing
Mendelics	RCV000477360	SCV001140303	benign	Combined oxidative phosphorylation defect type 17	2019-05-28	criteria provided, single submitter	clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	RCV000477360	SCV002767269	likely benign	Combined oxidative phosphorylation defect type 17	2022-02-02	criteria provided, single submitter	clinical testing	Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as likely benign. Following criteria are met: 0308 - Population frequency for this variant is out of keeping with known incidence of autosomal recessive Combined oxidative phosphorylation deficiency 17 (MIM#615440). (SB) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Fulgent Genetics, Fulgent Genetics	RCV002490321	SCV002802792	likely benign	Prostate cancer, hereditary, 2; Combined oxidative phosphorylation defect type 17	2021-10-26	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000676439	SCV005247893	benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000005359	SCV000025537	pathogenic	Prostate cancer, hereditary, 2	2002-12-01	no assertion criteria provided	literature only
Mayo Clinic Laboratories, Mayo Clinic	RCV000676439	SCV000802220	benign	not provided	2016-02-15	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000429965	SCV001977853	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000429965	SCV001978526	benign	not specified		no assertion criteria provided	clinical testing