ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.715C>T (p.Arg239Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003074905 SCV003459819 pathogenic MHC class II deficiency 2022-09-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of major histocompatibility complex class II deficiency (PMID: 30084052, 30170160, 32888943). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg239*) in the RFX5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RFX5 are known to be pathogenic (PMID: 7744245, 9401005, 10079298).
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003074905 SCV004806202 pathogenic MHC class II deficiency criteria provided, single submitter clinical testing
OMIM RCV004565683 SCV005045501 pathogenic MHC class II deficiency 3 2024-05-23 no assertion criteria provided literature only

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