ClinVar Miner

Submissions for variant NM_017909.4(RMND1):c.1039G>A (p.Glu347Lys)

gnomAD frequency: 0.00001  dbSNP: rs778086286
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333978 SCV001526706 uncertain significance Combined oxidative phosphorylation defect type 11 2018-09-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546663 SCV003288725 uncertain significance not provided 2022-06-24 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 347 of the RMND1 protein (p.Glu347Lys). This variant is present in population databases (rs778086286, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with RMND1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1032010). 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 lysine 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.
Mayo Clinic Laboratories, Mayo Clinic RCV002546663 SCV005408033 uncertain significance not provided 2023-06-13 criteria provided, single submitter clinical testing BP4_strong, PM2_moderate

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