ClinVar Miner

Submissions for variant NM_017866.6(TMEM70):c.721G>A (p.Glu241Lys)

gnomAD frequency: 0.00001  dbSNP: rs762713721
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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 RCV001899373 SCV002131561 uncertain significance Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2022-12-02 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. ClinVar contains an entry for this variant (Variation ID: 1370614). This variant has not been reported in the literature in individuals affected with TMEM70-related conditions. This variant is present in population databases (rs762713721, gnomAD 0.006%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 241 of the TMEM70 protein (p.Glu241Lys).

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