ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1246del (p.Glu416fs)

dbSNP: rs1250411982
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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 RCV001939617 SCV002229538 pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2023-07-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1454905). This variant has not been reported in the literature in individuals affected with MTO1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Glu416Lysfs*7) 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).

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