ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.290G>A (p.Arg97His)

dbSNP: rs756804631
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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 RCV001340718 SCV001534545 uncertain significance MHC class II deficiency 2022-12-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 97 of the RFX5 protein (p.Arg97His). 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 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"). ClinVar contains an entry for this variant (Variation ID: 1037547). This variant has not been reported in the literature in individuals affected with RFX5-related conditions. This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics RCV004671350 SCV005162838 uncertain significance not specified 2024-06-22 criteria provided, single submitter clinical testing The c.290G>A (p.R97H) alteration is located in exon 6 (coding exon 4) of the RFX5 gene. This alteration results from a G to A substitution at nucleotide position 290, causing the arginine (R) at amino acid position 97 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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