ClinVar Miner

Submissions for variant NM_003921.5(BCL10):c.529C>A (p.Leu177Ile)

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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 RCV002304493 SCV002589833 uncertain significance Immunodeficiency 37 2022-08-20 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. 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. This variant has not been reported in the literature in individuals affected with BCL10-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 177 of the BCL10 protein (p.Leu177Ile).
Ambry Genetics RCV004603193 SCV005098396 uncertain significance Inborn genetic diseases 2024-04-25 criteria provided, single submitter clinical testing The c.529C>A (p.L177I) alteration is located in exon 3 (coding exon 3) of the BCL10 gene. This alteration results from a C to A substitution at nucleotide position 529, causing the leucine (L) at amino acid position 177 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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