Submissions for variant NM_017866.6(TMEM70):c.497_498del (p.Tyr166fs)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002576421	SCV002929383	pathogenic	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	2022-05-01	criteria provided, single submitter	clinical testing	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; Invitae). 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. 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.Tyr166Cysfs*7) in the TMEM70 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 95 amino acid(s) of the TMEM70 protein.
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur	RCV002576421	SCV005880163	likely pathogenic	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2	2024-02-27	criteria provided, single submitter	clinical testing