ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.1075G>A (p.Gly359Arg)

gnomAD frequency: 0.00003  dbSNP: rs201876415
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001802473 SCV002048594 uncertain significance RFT1-congenital disorder of glycosylation 2021-03-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001802473 SCV002303226 uncertain significance RFT1-congenital disorder of glycosylation 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 359 of the RFT1 protein (p.Gly359Arg). This variant is present in population databases (rs201876415, gnomAD 0.007%). 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: 1330814). 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: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Ambry Genetics RCV004040895 SCV004939484 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.1075G>A (p.G359R) alteration is located in exon 10 (coding exon 10) of the RFT1 gene. This alteration results from a G to A substitution at nucleotide position 1075, causing the glycine (G) at amino acid position 359 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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