ClinVar Miner

Submissions for variant NM_017866.6(TMEM70):c.305G>A (p.Arg102Gln)

dbSNP: rs1455207577
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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 RCV001903446 SCV002171555 uncertain significance Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2023-08-04 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TMEM70 protein function. ClinVar contains an entry for this variant (Variation ID: 1404875). This variant has not been reported in the literature in individuals affected with TMEM70-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 102 of the TMEM70 protein (p.Arg102Gln).

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