ClinVar Miner

Submissions for variant NM_152269.5(MTRFR):c.296G>A (p.Arg99Lys)

gnomAD frequency: 0.00001  dbSNP: rs367548363
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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 RCV001225888 SCV001398182 uncertain significance Combined oxidative phosphorylation defect type 7; Spastic paraplegia 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 99 of the C12orf65 protein (p.Arg99Lys). This variant is present in population databases (rs367548363, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with C12orf65-related conditions. ClinVar contains an entry for this variant (Variation ID: 953575). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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