ClinVar Miner

Submissions for variant NM_152269.5(MTRFR):c.71G>T (p.Arg24Leu)

dbSNP: rs144150548
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001765287 SCV001997920 uncertain significance not provided 2019-10-11 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002540365 SCV003294996 uncertain significance Combined oxidative phosphorylation defect type 7; Spastic paraplegia 2022-03-11 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1309118). This variant has not been reported in the literature in individuals affected with C12orf65-related conditions. This variant is present in population databases (rs144150548, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 24 of the C12orf65 protein (p.Arg24Leu).

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