ClinVar Miner

Submissions for variant NM_017866.6(TMEM70):c.368del (p.Pro123fs)

dbSNP: rs2131236570
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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 RCV001958784 SCV002241038 pathogenic Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2024-04-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro123Hisfs*31) in the TMEM70 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 138 amino acid(s) of the TMEM70 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TMEM70-related conditions. ClinVar contains an entry for this variant (Variation ID: 1458977). This variant disrupts a region of the TMEM70 protein in which other variant(s) (p.Thr193Serfs*6) have been determined to be pathogenic (PMID: 21147908). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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