ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1864G>C (p.Ala622Pro)

dbSNP: rs2147424035
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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 RCV001368905 SCV001565324 uncertain significance X-linked agammaglobulinemia with growth hormone deficiency 2020-11-05 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with proline at codon 622 of the BTK protein (p.Ala622Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. This variant has been observed in individual(s) with agammaglobulinemia (PMID: 8938104, 9545398). 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.

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