Submissions for variant NM_018127.7(ELAC2):c.155C>G (p.Ser52Cys)

dbSNP: rs9895963

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085155	SCV000290442	likely benign	Combined oxidative phosphorylation defect type 17	2024-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000786129	SCV001786457	likely benign	not provided	2021-02-10	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV003224237	SCV003919916	uncertain significance	Prostate cancer, hereditary, 2; Combined oxidative phosphorylation defect type 17	2021-03-30	criteria provided, single submitter	clinical testing	ELAC2 NM_018127.6 exon 1 p.Ser52Cys (c.155C>G): This variant has not been reported in the literature but is present in 0.2% (51/18600) of East Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/17-12921110-G-C). This variant is present in ClinVar (Variation ID:241271). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Stanford Center for Inherited Cardiovascular Disease, Stanford University	RCV000786129	SCV000924791	uncertain significance	not provided	2017-05-24	no assertion criteria provided	provider interpretation
PreventionGenetics, part of Exact Sciences	RCV003955363	SCV004774358	likely benign	ELAC2-related disorder	2022-04-15	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).