ClinVar Miner

Submissions for variant NM_017909.4(RMND1):c.1084C>T (p.Arg362Cys)

gnomAD frequency: 0.00004  dbSNP: rs755188314
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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 RCV001945205 SCV002183101 uncertain significance not provided 2023-08-17 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 RMND1 protein function. ClinVar contains an entry for this variant (Variation ID: 1414134). This variant has not been reported in the literature in individuals affected with RMND1-related conditions. This variant is present in population databases (rs755188314, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 362 of the RMND1 protein (p.Arg362Cys).
Fulgent Genetics, Fulgent Genetics RCV002479392 SCV002790699 uncertain significance Combined oxidative phosphorylation defect type 11 2022-01-12 criteria provided, single submitter clinical testing

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