ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.1124A>G (p.Tyr375Cys)

dbSNP: rs1701249101
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001955422 SCV002216432 uncertain significance RFT1-congenital disorder of glycosylation 2023-07-07 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 375 of the RFT1 protein (p.Tyr375Cys). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt RFT1 protein function. ClinVar contains an entry for this variant (Variation ID: 1437117). This variant has not been reported in the literature in individuals affected with RFT1-related conditions. This variant is not present in population databases (gnomAD no frequency).

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