ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1189C>A (p.His397Asn)

dbSNP: rs1771465246
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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 RCV001873085 SCV002146593 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2021-08-05 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 sequence change replaces histidine with asparagine at codon 397 of the MTO1 protein (p.His397Asn). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and asparagine.

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