ClinVar Miner

Submissions for variant NM_017909.4(RMND1):c.68G>A (p.Arg23Gln)

gnomAD frequency: 0.00004  dbSNP: rs377114459
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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 RCV001873128 SCV002138613 uncertain significance not provided 2021-08-05 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 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. This variant has not been reported in the literature in individuals affected with RMND1-related conditions. This variant is present in population databases (rs377114459, ExAC 0.02%). This sequence change replaces arginine with glutamine at codon 23 of the RMND1 protein (p.Arg23Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine.
Fulgent Genetics, Fulgent Genetics RCV002506932 SCV002816420 uncertain significance Combined oxidative phosphorylation defect type 11 2022-04-22 criteria provided, single submitter clinical testing

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