ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1294G>A (p.Val432Ile)

dbSNP: rs774315947
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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 RCV002037338 SCV002115469 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2021-10-19 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with MTO1-related conditions. This variant is present in population databases (rs774315947, ExAC 0.001%). This sequence change replaces valine with isoleucine at codon 432 of the MTO1 protein (p.Val432Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine.

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