ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2978C>T (p.Ala993Val)

gnomAD frequency: 0.00002  dbSNP: rs547505584
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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 RCV000816836 SCV000957362 uncertain significance MHC class II deficiency 2022-08-07 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 993 of the CIITA protein (p.Ala993Val). 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 variant has not been reported in the literature in individuals affected with CIITA-related conditions. ClinVar contains an entry for this variant (Variation ID: 659782). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Natera, Inc. RCV000816836 SCV001462359 uncertain significance MHC class II deficiency 2020-09-16 no assertion criteria provided clinical testing

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