ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2014C>T (p.Gln672Ter)

dbSNP: rs2144728494
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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 RCV001386216 SCV001586355 pathogenic MHC class II deficiency 2021-12-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1073259). This variant has not been reported in the literature in individuals affected with CIITA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln672*) 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). For these reasons, this variant has been classified as Pathogenic.

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