ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.344C>T (p.Ser115Phe)

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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 RCV003513695 SCV004300179 uncertain significance X-linked agammaglobulinemia with growth hormone deficiency 2024-01-16 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 115 of the BTK protein (p.Ser115Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with agammaglobulinemia (PMID: 8938104). 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 with a positive predictive value of 95%. 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.

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