ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.367_368del (p.Leu124fs)

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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 RCV003091009 SCV003467862 pathogenic MHC class II deficiency 2022-09-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu124Cysfs*21) 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). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with major histocompatibility complex (MHC) class II deficiency (PMID: 34093558). For these reasons, this variant has been classified as Pathogenic.

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