ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.417+2T>C

gnomAD frequency: 0.00001  dbSNP: rs1030161382
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001035101 SCV001198416 likely pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2022-05-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MTO1-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 834420). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 2 of the MTO1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MTO1 are known to be pathogenic (PMID: 22608499, 25058219).

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