ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1239T>G (p.Phe413Leu)

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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 RCV003626005 SCV004463971 uncertain significance X-linked agammaglobulinemia with growth hormone deficiency 2023-05-13 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. 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. This missense change has been observed in individual(s) with clinical features of agammaglobulinemia (PMID: 25777788, 32888943). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 413 of the BTK protein (p.Phe413Leu).

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