ClinVar Miner

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

dbSNP: rs9895963
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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.
PreventionGenetics, part of Exact Sciences RCV003955363 SCV004774358 likely benign ELAC2-related condition 2022-04-15 criteria provided, single submitter 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).
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000786129 SCV000924791 uncertain significance not provided 2017-05-24 no assertion criteria provided provider interpretation

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