ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.802_803dup (p.Pro269fs)

dbSNP: rs2144614170
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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 RCV001972782 SCV002240390 pathogenic MHC class II deficiency 2021-04-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Pro269Leufs*38) in the CIITA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CIITA are known to be pathogenic (PMID: 8402893, 9099848, 26271388). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CIITA-related conditions.

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