ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.1984_1992dup (p.Ala664_Trp665insLysLeuAla)

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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 RCV002833947 SCV003216289 uncertain significance MHC class II deficiency 2022-06-24 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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 variant, c.1984_1992dup, results in the insertion of 3 amino acid(s) of the CIITA protein (p.Lys662_Ala664dup), but otherwise preserves the integrity of the reading frame.

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