ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.1020_1022dup (p.Ile341dup)

dbSNP: rs1571257755
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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 RCV000812570 SCV000952888 uncertain significance MHC class II deficiency 2018-10-10 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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. This variant has not been reported in the literature in individuals with RFX5-related disease. This variant is not present in population databases (ExAC no frequency). This variant, c.1020_1022dupAAT, results in the insertion of 1 amino acid(s) to the RFX5 protein (p.Ile341dup), but otherwise preserves the integrity of the reading frame.

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