ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.122T>G (p.Val41Gly)

dbSNP: rs1770831602
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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 RCV001988697 SCV002281851 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2021-10-04 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This missense change has been observed in individual(s) with autosomal recessive MTO1-related conditions (PMID: 29331171). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with glycine at codon 41 of the MTO1 protein (p.Val41Gly). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glycine.

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