ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.632del (p.Pro211fs)

dbSNP: rs2144580551
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001390506 SCV001592247 pathogenic MHC class II deficiency 2023-08-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1076559). 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.Pro211Leufs*7) 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).
Fulgent Genetics, Fulgent Genetics RCV005005928 SCV005643454 likely pathogenic Rheumatoid arthritis; MHC class II deficiency 1 2024-03-07 criteria provided, single submitter clinical testing

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