ClinVar Miner

Submissions for variant NM_017909.4(RMND1):c.1159G>C (p.Asp387His)

dbSNP: rs372096369
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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 RCV002028414 SCV002286242 uncertain significance not provided 2022-09-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 387 of the RMND1 protein (p.Asp387His). This variant is present in population databases (rs372096369, gnomAD 0.004%). 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: 1496042). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV002486597 SCV002792020 uncertain significance Combined oxidative phosphorylation defect type 11 2021-10-26 criteria provided, single submitter clinical testing

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