ClinVar Miner

Submissions for variant NM_017866.6(TMEM70):c.613G>T (p.Ala205Ser)

gnomAD frequency: 0.00002  dbSNP: rs146178894
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000810162 SCV000950353 uncertain significance Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2022-05-21 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 205 of the TMEM70 protein (p.Ala205Ser). This variant is present in population databases (rs146178894, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TMEM70-related conditions. ClinVar contains an entry for this variant (Variation ID: 654240). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
GeneDx RCV003106072 SCV003762050 uncertain significance not provided 2022-07-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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