ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.1008_1014del (p.Pro337fs)

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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 RCV003638058 SCV004456835 pathogenic MHC class II deficiency 2023-04-09 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the RFX5 protein in which other variant(s) (p.Ser571Glnfs*22) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with RFX5-related conditions. This sequence change creates a premature translational stop signal (p.Pro337Hisfs*2) in the RFX5 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 280 amino acid(s) of the RFX5 protein.

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