ClinVar Miner

Submissions for variant NM_003721.4(RFXANK):c.532G>T (p.Glu178Ter)

dbSNP: rs2146493181
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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 RCV001944477 SCV002132641 pathogenic MHC class II deficiency 2021-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu178*) in the RFXANK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RFXANK are known to be pathogenic (PMID: 10803838, 16166641, 21908431). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RFXANK-related conditions. For these reasons, this variant has been classified as Pathogenic.

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