ClinVar Miner

Submissions for variant NM_017909.4(RMND1):c.1289G>C (p.Trp430Ser)

gnomAD frequency: 0.00001  dbSNP: rs755793918
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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 RCV001970645 SCV002252221 uncertain significance not provided 2022-07-30 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 430 of the RMND1 protein (p.Trp430Ser). This variant is present in population databases (rs755793918, gnomAD 0.006%). 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: 1468396). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002507724 SCV002815058 uncertain significance Combined oxidative phosphorylation defect type 11 2022-05-05 criteria provided, single submitter clinical testing

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