ClinVar Miner

Submissions for variant NM_003921.5(BCL10):c.505A>C (p.Asn169His)

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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 RCV002596301 SCV003503777 uncertain significance Immunodeficiency 37 2022-01-04 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. Experimental studies have shown that this missense change does not substantially affect BCL10 function (PMID: 32008135). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with BCL10-related conditions. This variant is present in population databases (rs760267922, gnomAD 0.002%). This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 169 of the BCL10 protein (p.Asn169His).

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