ClinVar Miner

Submissions for variant NM_004589.4(SCO1):c.297A>G (p.Ala99=)

gnomAD frequency: 0.01326  dbSNP: rs11538237
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128007 SCV000171597 benign not specified 2014-04-17 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.
Illumina Laboratory Services, Illumina RCV000320203 SCV000400548 benign Leigh syndrome 2018-01-13 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 RCV000294348 SCV000400549 likely benign Cytochrome-c oxidase deficiency disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000294348 SCV000400550 likely benign Cytochrome-c oxidase deficiency disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000974130 SCV001121943 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498635 SCV002811852 benign Mitochondrial complex 4 deficiency, nuclear type 4 2021-07-26 criteria provided, single submitter clinical testing

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