ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1694C>T (p.Pro565Leu)

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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 RCV003041461 SCV003445762 likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency 2022-02-19 criteria provided, single submitter clinical testing 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.Pro565 amino acid residue in BTK. Other variant(s) that disrupt this residue have been observed in individuals with BTK-related conditions (PMID: 12768435), which suggests that this may be a clinically significant amino acid residue. Experimental studies have shown that this missense change affects BTK function (PMID: 11892085). 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 individuals with clinical features of agammaglobulinemia (PMID: 11892085; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 565 of the BTK protein (p.Pro565Leu).

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