ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.167T>C (p.Ile56Thr)

dbSNP: rs1927146374
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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 RCV001235566 SCV001408257 likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency 2022-11-29 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 56 of the BTK protein (p.Ile56Thr). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Ile56 amino acid residue in BTK. Other variant(s) that disrupt this residue have been observed in individuals with BTK-related conditions (PMID: 33225392), which suggests that this may be a clinically significant amino acid residue. 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 expected to disrupt BTK protein function. ClinVar contains an entry for this variant (Variation ID: 961808). This missense change has been observed in individual(s) with X-linked agammaglobulinemia (PMID: 16159644). This variant is not present in population databases (gnomAD no frequency).

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