ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.208G>A (p.Asp70Asn)

gnomAD frequency: 0.00001  dbSNP: rs1346321637
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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 RCV001975702 SCV002255889 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2021-08-06 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 not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with asparagine at codon 70 of the MTO1 protein (p.Asp70Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine.

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