ClinVar Miner

Submissions for variant NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) (rs31304)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000280222 SCV000457888 benign Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342200 SCV000457889 benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America 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.
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 Genetic Testing Laboratories,Mayo Clinic RCV000676474 SCV000802256 benign not provided 2016-02-19 no assertion criteria provided clinical testing

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