ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.623C>T (p.Pro208Leu)

dbSNP: rs2107157423
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002025252 SCV002277025 uncertain significance RFT1-congenital disorder of glycosylation 2021-07-01 criteria provided, single submitter clinical testing 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. 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. This sequence change replaces proline with leucine at codon 208 of the RFT1 protein (p.Pro208Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with RFT1-related conditions.

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