ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.49A>G (p.Lys17Glu)

gnomAD frequency: 0.00026  dbSNP: rs145625396
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001910529 SCV002196124 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2022-07-21 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 17 of the MTO1 protein (p.Lys17Glu). This variant is present in population databases (rs145625396, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with MTO1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1419663). 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. 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.
Ambry Genetics RCV002560417 SCV003752959 uncertain significance Inborn genetic diseases 2022-12-28 criteria provided, single submitter clinical testing The c.49A>G (p.K17E) alteration is located in exon 1 (coding exon 1) of the MTO1 gene. This alteration results from a A to G substitution at nucleotide position 49, causing the lysine (K) at amino acid position 17 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003442961 SCV004168557 uncertain significance not provided 2023-10-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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