ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.1030A>G (p.Ile344Val)

dbSNP: rs201420133
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061406 SCV001226148 uncertain significance MHC class II deficiency 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 344 of the RFX5 protein (p.Ile344Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with RFX5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV003160494 SCV003905760 uncertain significance Inborn genetic diseases 2023-03-01 criteria provided, single submitter clinical testing The c.1030A>G (p.I344V) alteration is located in exon 11 (coding exon 9) of the RFX5 gene. This alteration results from a A to G substitution at nucleotide position 1030, causing the isoleucine (I) at amino acid position 344 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001061406 SCV004049754 uncertain significance MHC class II deficiency 2023-04-11 criteria provided, single submitter clinical testing

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