ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.1376A>G (p.His459Arg)

gnomAD frequency: 0.00001  dbSNP: rs144531852
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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 RCV001992764 SCV002217914 uncertain significance RFT1-congenital disorder of glycosylation 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 459 of the RFT1 protein (p.His459Arg). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs144531852, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with RFT1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV004955963 SCV005486213 uncertain significance Inborn genetic diseases 2024-10-01 criteria provided, single submitter clinical testing The c.1376A>G (p.H459R) alteration is located in exon 12 (coding exon 12) of the RFT1 gene. This alteration results from a A to G substitution at nucleotide position 1376, causing the histidine (H) at amino acid position 459 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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