ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1194G>T (p.Leu398Phe)

gnomAD frequency: 0.00001  dbSNP: rs772209676
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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 RCV000472934 SCV000547863 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2016-09-30 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 398 of the MTO1 protein (p.Leu398Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant is present in population databases (rs772209676, ExAC 0.01%) but has not been reported in the literature in individuals with a MTO1-related disease.

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