ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.1465+4A>T

gnomAD frequency: 0.00003  dbSNP: rs555094677
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002024803 SCV002308196 uncertain significance Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2022-07-06 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the MTO1 gene. It does not directly change the encoded amino acid sequence of the MTO1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs555094677, 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: 1519785). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Breakthrough Genomics, Breakthrough Genomics RCV004694152 SCV005189113 uncertain significance not provided criteria provided, single submitter not provided

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