ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.784C>T (p.Arg262Trp)

dbSNP: rs773920954
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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 RCV001305860 SCV001495208 uncertain significance MHC class II deficiency 2022-06-20 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1008509). This variant has not been reported in the literature in individuals affected with RFX5-related conditions. This variant is present in population databases (rs773920954, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 262 of the RFX5 protein (p.Arg262Trp).
Ambry Genetics RCV004036372 SCV004937779 uncertain significance not specified 2023-09-21 criteria provided, single submitter clinical testing The c.784C>T (p.R262W) alteration is located in exon 10 (coding exon 8) of the RFX5 gene. This alteration results from a C to T substitution at nucleotide position 784, causing the arginine (R) at amino acid position 262 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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