ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.1298C>T (p.Thr433Ile)

gnomAD frequency: 0.00001  dbSNP: rs946314298
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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 RCV001226555 SCV001398875 uncertain significance MHC class II deficiency 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 433 of the RFX5 protein (p.Thr433Ile). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with RFX5-related conditions. ClinVar contains an entry for this variant (Variation ID: 954150). 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"). 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 RCV004847784 SCV005488332 uncertain significance not specified 2024-08-27 criteria provided, single submitter clinical testing The c.1298C>T (p.T433I) alteration is located in exon 11 (coding exon 9) of the RFX5 gene. This alteration results from a C to T substitution at nucleotide position 1298, causing the threonine (T) at amino acid position 433 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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