ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1619G>T (p.Ser540Ile)

dbSNP: rs773811434
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001806677 SCV002050676 uncertain significance not provided 2021-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001885255 SCV002315680 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2021-05-19 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MTO1-related conditions. This variant is present in population databases (rs773811434, ExAC 0.003%). This sequence change replaces serine with isoleucine at codon 540 of the MTO1 protein (p.Ser540Ile). The serine residue is weakly conserved and there is a large physicochemical difference between serine and isoleucine.

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