ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1933C>A (p.Arg645Ser)

gnomAD frequency: 0.00001  dbSNP: rs746382157
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454177 SCV000538001 likely pathogenic Abnormal brain morphology criteria provided, single submitter research
GeneDx RCV001597135 SCV001831855 uncertain significance not provided 2020-08-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31589614, 26539891)
Labcorp Genetics (formerly Invitae), Labcorp RCV001865410 SCV002183320 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 645 of the MTO1 protein (p.Arg645Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine. This variant is present in population databases (rs746382157, ExAC 0.02%). This missense change has been observed in individual(s) with congenital brain abnormalities (PMID: 26539891). This variant is also known as c.C2053A (p.R685S). ClinVar contains an entry for this variant (Variation ID: 402215). 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"). 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.

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