ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.3234C>T (p.Asp1078=)

gnomAD frequency: 0.00011  dbSNP: rs201907821
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001118767 SCV001277075 uncertain significance MHC class II deficiency 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001118767 SCV003300258 uncertain significance MHC class II deficiency 2022-10-17 criteria provided, single submitter clinical testing This sequence change affects codon 1078 of the CIITA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CIITA protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs201907821, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with CIITA-related conditions. ClinVar contains an entry for this variant (Variation ID: 886529). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Ambry Genetics RCV004032212 SCV004927397 likely benign Inborn genetic diseases 2024-01-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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