ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.511G>A (p.Val171Met)

gnomAD frequency: 0.00002  dbSNP: rs561602179
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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 RCV001983656 SCV002275075 uncertain significance RFT1-congenital disorder of glycosylation 2022-07-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RFT1-related conditions. This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 171 of the RFT1 protein (p.Val171Met). This variant is present in population databases (rs561602179, gnomAD 0.02%). ClinVar contains an entry for this variant (Variation ID: 1490264). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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