ClinVar Miner

Submissions for variant NM_017866.6(TMEM70):c.56GGA[1] (p.Arg20del)

dbSNP: rs2131230816
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001897983 SCV002157830 uncertain significance Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2021-04-22 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with TMEM70-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.59_61del, results in the deletion of 1 amino acid(s) of the TMEM70 protein (p.Arg20del), but otherwise preserves the integrity of the reading frame.

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