ClinVar Miner

Submissions for variant NM_003921.5(BCL10):c.356G>A (p.Cys119Tyr)

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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 RCV002299225 SCV002591567 uncertain significance Immunodeficiency 37 2022-08-03 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 119 of the BCL10 protein (p.Cys119Tyr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BCL10-related conditions. 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 tyrosine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004603192 SCV005098397 uncertain significance Inborn genetic diseases 2024-04-15 criteria provided, single submitter clinical testing The c.356G>A (p.C119Y) alteration is located in exon 3 (coding exon 3) of the BCL10 gene. This alteration results from a G to A substitution at nucleotide position 356, causing the cysteine (C) at amino acid position 119 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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