ClinVar Miner

Submissions for variant NM_152269.5(MTRFR):c.274G>A (p.Val92Ile)

dbSNP: rs781746861
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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 RCV002239174 SCV002509540 uncertain significance Combined oxidative phosphorylation defect type 7; Spastic paraplegia 2022-09-07 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 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"). ClinVar contains an entry for this variant (Variation ID: 1681655). This variant has not been reported in the literature in individuals affected with C12orf65-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 92 of the C12orf65 protein (p.Val92Ile).

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