ClinVar Miner

Submissions for variant NM_003721.4(RFXANK):c.600del (p.Asn201fs)

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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 RCV003079232 SCV003461970 pathogenic MHC class II deficiency 2022-05-20 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn201Thrfs*3) 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 premature translational stop signal has been observed in individual(s) with MHC class II deficiency (PMID: 30170160). For these reasons, this variant has been classified as Pathogenic.

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