ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.961A>T (p.Lys321Ter)

dbSNP: rs148667065
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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 RCV001901444 SCV002175907 pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2023-09-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MTO1-related conditions. This variant is present in population databases (rs148667065, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Lys321*) 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). ClinVar contains an entry for this variant (Variation ID: 1404043). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.

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