ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.307A>G (p.Ile103Val)

gnomAD frequency: 0.00006  dbSNP: rs574980280
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001911319 SCV002174423 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2022-12-16 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 103 of the MTO1 protein (p.Ile103Val). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MTO1 protein function. ClinVar contains an entry for this variant (Variation ID: 1400417). This variant has not been reported in the literature in individuals affected with MTO1-related conditions. This variant is present in population databases (rs574980280, gnomAD 0.05%).
Ambry Genetics RCV002554347 SCV003553743 uncertain significance Inborn genetic diseases 2022-12-15 criteria provided, single submitter clinical testing The c.307A>G (p.I103V) alteration is located in exon 2 (coding exon 2) of the MTO1 gene. This alteration results from a A to G substitution at nucleotide position 307, causing the isoleucine (I) at amino acid position 103 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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