ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.1375C>T (p.His459Tyr)

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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 RCV003116824 SCV003795497 uncertain significance RFT1-congenital disorder of glycosylation 2022-03-12 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 459 of the RFT1 protein (p.His459Tyr). This variant is present in population databases (rs774660163, gnomAD 0.1%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The tyrosine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004961188 SCV005486211 uncertain significance Inborn genetic diseases 2024-07-05 criteria provided, single submitter clinical testing The c.1375C>T (p.H459Y) alteration is located in exon 12 (coding exon 12) of the RFT1 gene. This alteration results from a C to T substitution at nucleotide position 1375, causing the histidine (H) at amino acid position 459 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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