ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.946C>T (p.Leu316Phe)

dbSNP: rs2107115119
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002008781 SCV002273148 uncertain significance RFT1-congenital disorder of glycosylation 2022-07-31 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 316 of the RFT1 protein (p.Leu316Phe). This variant is not present in population databases (gnomAD no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1487714). This variant has not been reported in the literature in individuals affected with RFT1-related conditions.

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