ClinVar Miner

Submissions for variant NM_152269.5(MTRFR):c.364G>A (p.Gly122Ser)

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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 RCV003117097 SCV003796091 uncertain significance Combined oxidative phosphorylation defect type 7; Spastic paraplegia 2022-06-25 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 122 of the C12orf65 protein (p.Gly122Ser). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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