ClinVar Miner

Submissions for variant NM_001025603.2(RFX5):c.312dup (p.Asp105Ter)

dbSNP: rs1571262081
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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 RCV000802772 SCV000942615 pathogenic MHC class II deficiency 2020-03-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RFX5 are known to be pathogenic (PMID: 7744245, 9401005, 10079298). 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 sequence change creates a premature translational stop signal (p.Asp105*) in the RFX5 gene. It is expected to result in an absent or disrupted protein product.

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