ClinVar Miner

Submissions for variant NM_004589.4(SCO1):c.242C>G (p.Pro81Arg)

gnomAD frequency: 0.00001  dbSNP: rs1224695466
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001806502 SCV002050399 uncertain significance not provided 2021-06-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002482330 SCV002778526 uncertain significance Mitochondrial complex 4 deficiency, nuclear type 4 2021-08-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040902 SCV004946127 likely benign Inborn genetic diseases 2023-09-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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