ClinVar Miner

Submissions for variant NM_152269.5(MTRFR):c.475T>C (p.Trp159Arg)

gnomAD frequency: 0.00001  dbSNP: rs755467137
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585621 SCV000692762 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002232210 SCV002509537 uncertain significance Combined oxidative phosphorylation defect type 7; Spastic paraplegia 2021-10-03 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: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 493127). This variant has not been reported in the literature in individuals affected with C12orf65-related conditions. This variant is present in population databases (rs755467137, ExAC 0.003%). This sequence change replaces tryptophan with arginine at codon 159 of the C12orf65 protein (p.Trp159Arg). The tryptophan residue is weakly conserved and there is a moderate physicochemical difference between tryptophan and arginine.

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