ClinVar Miner

Submissions for variant NM_017866.6(TMEM70):c.44C>T (p.Pro15Leu)

gnomAD frequency: 0.00001  dbSNP: rs768462177
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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 RCV001887072 SCV002157663 uncertain significance Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2022-05-21 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with TMEM70-related conditions. This variant is present in population databases (rs768462177, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 15 of the TMEM70 protein (p.Pro15Leu).

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