ClinVar Miner

Submissions for variant NM_017909.4(RMND1):c.852G>C (p.Arg284Ser)

gnomAD frequency: 0.00027  dbSNP: rs139955178
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001659092 SCV001875317 uncertain significance not provided 2024-05-24 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001659092 SCV002262035 uncertain significance not provided 2022-08-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 284 of the RMND1 protein (p.Arg284Ser). This variant is present in population databases (rs139955178, gnomAD 0.07%). 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: 1254910). 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: "Tolerated"; 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.
New York Genome Center RCV002227531 SCV002506853 uncertain significance Combined oxidative phosphorylation defect type 11 2021-06-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539627 SCV003708601 uncertain significance Inborn genetic diseases 2022-06-09 criteria provided, single submitter clinical testing The c.852G>C (p.R284S) alteration is located in exon 7 (coding exon 6) of the RMND1 gene. This alteration results from a G to C substitution at nucleotide position 852, causing the arginine (R) at amino acid position 284 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004690121 SCV005186115 uncertain significance not specified 2024-05-01 criteria provided, single submitter clinical testing Variant summary: RMND1 c.852G>C (p.Arg284Ser) results in a non-conservative amino acid change located in the Domain of unknown function DUF155 (IPR003734) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00021 in 251316 control chromosomes. To our knowledge, no occurrence of c.852G>C in individuals affected with Combined Oxidative Phosphorylation Defect Type 11 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1254910). Based on the evidence outlined above, the variant was classified as uncertain significance.

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