Submissions for variant NM_005138.3(SCO2):c.386G>A (p.Gly129Asp)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003017750	SCV003325318	uncertain significance	not provided	2022-03-11	criteria provided, single submitter	clinical testing	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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C65". The aspartic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with SCO2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 129 of the SCO2 protein (p.Gly129Asp).
Baylor Genetics	RCV004560006	SCV005049390	uncertain significance	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	2024-01-24	criteria provided, single submitter	clinical testing

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