ClinVar Miner

Submissions for variant NM_017909.4(RMND1):c.920A>G (p.Asn307Ser)

gnomAD frequency: 0.00002  dbSNP: rs746632175
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000985232 SCV002779343 uncertain significance Combined oxidative phosphorylation defect type 11 2022-05-17 criteria provided, single submitter clinical testing
Invitae RCV002550587 SCV002956455 uncertain significance not provided 2023-06-13 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: 801002). This missense change has been observed in individual(s) with clinical features of RMND1-related conditions (PMID: 31981491). This variant is present in population databases (rs746632175, gnomAD 0.006%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 307 of the RMND1 protein (p.Asn307Ser).
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985232 SCV001133266 uncertain significance Combined oxidative phosphorylation defect type 11 2019-09-26 no assertion criteria provided clinical testing

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