ClinVar Miner

Submissions for variant NM_005138.3(SCO2):c.341G>A (p.Arg114His)

gnomAD frequency: 0.00076  dbSNP: rs145100473
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000872109 SCV001013877 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001149870 SCV001310868 uncertain significance Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001149871 SCV001310869 uncertain significance Mitochondrial complex IV deficiency, nuclear type 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV000872109 SCV001789766 uncertain significance not provided 2023-10-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27581939, 25959673, 34426522, 23643385, 35457050, 28518168, 35328081, 32461654)
Ambry Genetics RCV002513637 SCV003663718 likely benign Inborn genetic diseases 2022-08-22 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.
OMIM RCV000043620 SCV000071645 pathogenic Myopia 6 2013-05-02 no assertion criteria provided literature only

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