ClinVar Miner

Submissions for variant NM_017866.6(TMEM70):c.153C>T (p.Gly51=)

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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 RCV002988787 SCV003293419 uncertain significance Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2022-01-07 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. 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 present in population databases (rs562374948, gnomAD 0.01%). This sequence change affects codon 51 of the TMEM70 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TMEM70 protein.

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