ClinVar Miner

Submissions for variant NM_152269.5(MTRFR):c.26T>C (p.Phe9Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002954146 SCV003281242 uncertain significance Combined oxidative phosphorylation defect type 7; Spastic paraplegia 2022-05-03 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 9 of the C12orf65 protein (p.Phe9Ser). This variant is present in population databases (rs148657561, gnomAD 0.002%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
GeneDx RCV003238909 SCV003936563 uncertain significance not provided 2022-12-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV003238909 SCV004228213 uncertain significance not provided 2023-04-27 criteria provided, single submitter clinical testing BP4

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