ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.1154A>G (p.Asn385Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003333392 SCV004040883 likely pathogenic RFT1-congenital disorder of glycosylation 2023-03-15 criteria provided, single submitter clinical testing
Invitae RCV003333392 SCV004293105 uncertain significance RFT1-congenital disorder of glycosylation 2023-02-13 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 385 of the RFT1 protein (p.Asn385Ser). This variant is present in population databases (no rsID available, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of RFT1-related conditions (PMID: 28940097). 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. 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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