ClinVar Miner

Submissions for variant NM_138576.4(BCL11B):c.908C>A (p.Pro303Gln)

gnomAD frequency: 0.00003  dbSNP: rs752385859
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001809278 SCV002059791 uncertain significance Immunodeficiency 49 2019-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003772267 SCV004659977 uncertain significance not provided 2023-01-07 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BCL11B protein function. ClinVar contains an entry for this variant (Variation ID: 1334063). This variant has not been reported in the literature in individuals affected with BCL11B-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 replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 303 of the BCL11B protein (p.Pro303Gln).

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