ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.682C>T (p.Gln228Ter)

dbSNP: rs2144582937
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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 RCV001956226 SCV002245909 pathogenic MHC class II deficiency 2021-09-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with MHC class II deficiency (PMID: 26271388). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln228*) 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).

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