ClinVar Miner

Submissions for variant NM_005138.3(SCO2):c.512G>A (p.Arg171Gln)

gnomAD frequency: 0.00002  dbSNP: rs775173963
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331366 SCV001523391 uncertain significance Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 2019-09-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001732130 SCV001982445 uncertain significance not provided 2021-06-11 criteria provided, single submitter clinical testing Published functional studies using patient derived fibroblasts suggest this variant may contribute to impairment of mitochondrial function and copper regulation, however additional studies are needed to validate the functional effect of this variant (Rebelo et al., 2018).; In silico analysis supports a deleterious effect on protein structure/function; Reported as compound heterozygous in trans with a second SCO2 variant in an individual with childhood-onset axonal Charcot-Marie-Tooth in published literature (Rebelo et al., 2018).; This variant is associated with the following publications: (PMID: 29351582, 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV001732130 SCV002205611 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 171 of the SCO2 protein (p.Arg171Gln). This variant is present in population databases (rs775173963, gnomAD 0.005%). This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease type 4 (PMID: 29351582). ClinVar contains an entry for this variant (Variation ID: 1029942). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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