ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.22G>T (p.Gly8Cys)

gnomAD frequency: 0.00002  dbSNP: rs993455093
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001978780 SCV002219432 uncertain significance RFT1-congenital disorder of glycosylation 2024-08-05 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 8 of the RFT1 protein (p.Gly8Cys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1440144). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV002562781 SCV003634493 uncertain significance Inborn genetic diseases 2022-07-07 criteria provided, single submitter clinical testing The c.22G>T (p.G8C) alteration is located in exon 1 (coding exon 1) of the RFT1 gene. This alteration results from a G to T substitution at nucleotide position 22, causing the glycine (G) at amino acid position 8 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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