ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.964G>A (p.Val322Ile)

gnomAD frequency: 0.00007  dbSNP: rs143888206
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002049608 SCV002113806 uncertain significance RFT1-congenital disorder of glycosylation 2023-08-04 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 322 of the RFT1 protein (p.Val322Ile). This variant is present in population databases (rs143888206, 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: 1353001). 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 not expected to disrupt RFT1 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.

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