ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu)

gnomAD frequency: 0.27559  dbSNP: rs4792311
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419055 SCV000517568 benign not specified 2016-01-18 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.
Mendelics RCV000989756 SCV001140304 benign Combined oxidative phosphorylation defect type 17 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000989756 SCV001730605 benign Combined oxidative phosphorylation defect type 17 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000989756 SCV001876002 benign Combined oxidative phosphorylation defect type 17 2021-07-30 criteria provided, single submitter clinical testing
Molecular Genetics, Royal Melbourne Hospital RCV000989756 SCV002503691 benign Combined oxidative phosphorylation defect type 17 2021-10-04 criteria provided, single submitter clinical testing Population allele frequency is 27% (rs4792311; 75,983/277,124 alleles in gnomAD v2.0.2). Based on the classification scheme RMH ACMG Guidelines v1.1.1, this variant is classified as Benign. Following criteria met: BA1
Fulgent Genetics, Fulgent Genetics RCV002476932 SCV002796756 benign Prostate cancer, hereditary, 2; Combined oxidative phosphorylation defect type 17 2021-09-30 criteria provided, single submitter clinical testing
OMIM RCV000005358 SCV000025536 pathogenic Prostate cancer, hereditary, 2 2002-01-01 no assertion criteria provided literature only
Mayo Clinic Laboratories, Mayo Clinic RCV000676444 SCV000802225 benign not provided 2016-02-15 no assertion criteria provided clinical testing

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