ClinVar Miner

Submissions for variant NM_152269.5(MTRFR):c.41C>T (p.Thr14Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002885924 SCV003243168 uncertain significance Combined oxidative phosphorylation defect type 7; Spastic paraplegia 2023-08-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2037642). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 14 of the C12orf65 protein (p.Thr14Ile). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with C12orf65-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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