ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter)

gnomAD frequency: 0.00004  dbSNP: rs775623164
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001042950 SCV001206659 pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2024-09-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg401*) in the MTO1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MTO1 are known to be pathogenic (PMID: 22608499, 25058219). This variant is present in population databases (rs775623164, gnomAD 0.02%). 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: 840849). For these reasons, this variant has been classified as Pathogenic.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001042950 SCV001448989 likely pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2019-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002551524 SCV003712943 pathogenic Inborn genetic diseases 2022-01-19 criteria provided, single submitter clinical testing The c.1201C>T (p.R401*) alteration, located in exon 7 (coding exon 7) of the MTO1 gene, consists of a C to T substitution at nucleotide position 1201. This changes the amino acid from an arginine (R) to a stop codon at amino acid position 401. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the available evidence, this alteration is classified as pathogenic.
Baylor Genetics RCV001042950 SCV003834893 likely pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2021-03-10 criteria provided, single submitter clinical testing

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