ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.781C>G (p.Arg261Gly)

gnomAD frequency: 0.00003  dbSNP: rs766042717
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334435 SCV001527284 uncertain significance RFT1-congenital disorder of glycosylation 2018-04-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001334435 SCV002287405 uncertain significance RFT1-congenital disorder of glycosylation 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 261 of the RFT1 protein (p.Arg261Gly). This variant is present in population databases (rs766042717, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with RFT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1032347). 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.

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