ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.913G>A (p.Val305Ile)

dbSNP: rs1457365776
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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 RCV002038671 SCV002313099 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2021-09-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with isoleucine at codon 305 of the MTO1 protein (p.Val305Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant has not been reported in the literature in individuals affected with MTO1-related conditions. 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: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.

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