ClinVar Miner

Submissions for variant NM_002495.4(NDUFS4):c.198A>C (p.Gly66=)

gnomAD frequency: 0.96579  dbSNP: rs31304
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services,Illumina RCV000280222 SCV000457888 benign Mitochondrial complex I deficiency, nuclear type 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services,Illumina RCV000342200 SCV000457889 benign Leigh syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000117714 SCV000917865 benign not specified 2018-09-17 criteria provided, single submitter clinical testing Variant summary: NDUFS4 c.198A>C alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.96 in 275374 control chromosomes, suggesting that it is the major allele (the variant most commonly observed in the general population), therefore is benign. Two ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cites the variant as benign. Based on the evidence outlined above, the variant was classified as benign.
Mendelics RCV000342200 SCV001136837 benign Leigh syndrome 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000676474 SCV001731657 benign not provided 2021-12-10 criteria provided, single submitter clinical testing
GeneDx RCV000676474 SCV001834824 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000280222 SCV002016113 benign Mitochondrial complex I deficiency, nuclear type 1 2021-09-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000117714 SCV000151961 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Laboratories,Mayo Clinic RCV000676474 SCV000802256 benign not provided 2016-02-19 no assertion criteria provided clinical testing

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