ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.1342_1343delinsTT (p.Ala448Phe)

dbSNP: rs2102059917
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002041610 SCV002115163 uncertain significance MHC class II deficiency 2021-05-19 criteria provided, single submitter clinical testing This sequence change replaces alanine with phenylalanine at codon 448 of the RFX5 protein (p.Ala448Phe). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and phenylalanine. 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: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with RFX5-related conditions. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database.

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