ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.968C>G (p.Ala323Gly)

gnomAD frequency: 0.00001  dbSNP: rs770086765
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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 RCV001928805 SCV002204986 uncertain significance RFT1-congenital disorder of glycosylation 2021-10-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, a(n) neutral and non-polar amino acid, with glycine, a(n) neutral and non-polar amino acid, at codon 323 of the RFT1 protein (p.Ala323Gly). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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"). This variant has not been reported in the literature in individuals affected with RFT1-related conditions. This variant is present in population databases (rs770086765, gnomAD 0.003%).
Ambry Genetics RCV004656744 SCV005162781 uncertain significance Inborn genetic diseases 2024-04-15 criteria provided, single submitter clinical testing The c.968C>G (p.A323G) alteration is located in exon 10 (coding exon 10) of the RFT1 gene. This alteration results from a C to G substitution at nucleotide position 968, causing the alanine (A) at amino acid position 323 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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