ClinVar Miner

Submissions for variant NM_005005.3(NDUFB9):c.530G>A (p.Arg177Gln)

gnomAD frequency: 0.00001  dbSNP: rs780144498
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726624 SCV000345865 uncertain significance not provided 2016-09-22 criteria provided, single submitter clinical testing
GeneDx RCV000344205 SCV000516144 likely benign not specified 2015-04-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000726624 SCV002220445 uncertain significance not provided 2021-12-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NDUFB9-related conditions. This variant is present in population databases (rs780144498, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 177 of the NDUFB9 protein (p.Arg177Gln). ClinVar contains an entry for this variant (Variation ID: 291159). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.

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