ClinVar Miner

Submissions for variant NM_017866.6(TMEM70):c.224G>A (p.Trp75Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003642335 SCV004553331 pathogenic Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2023-03-29 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with TMEM70-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp75*) in the TMEM70 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TMEM70 are known to be pathogenic (PMID: 18953340, 21147908). For these reasons, this variant has been classified as Pathogenic.

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