ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.1962dup (p.Gly655fs)

dbSNP: rs778982759
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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 RCV000821315 SCV000962069 pathogenic MHC class II deficiency 2023-03-08 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: 663446). This variant has not been reported in the literature in individuals affected with CIITA-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Gly655Argfs*94) 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).
Revvity Omics, Revvity RCV000821315 SCV003826767 likely pathogenic MHC class II deficiency 2022-10-17 criteria provided, single submitter clinical testing

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