ClinVar Miner

Submissions for variant NM_005546.4(ITK):c.1562C>T (p.Pro521Leu)

gnomAD frequency: 0.00001  dbSNP: rs759932471
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002000579 SCV002269156 uncertain significance Lymphoproliferative syndrome 1 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 521 of the ITK protein (p.Pro521Leu). This variant is present in population databases (rs759932471, gnomAD 0.007%). This missense change has been observed in individual(s) with autoimmune lymphoproliferative syndrome and/or primary immunodeficiency (PMID: 32628964, 32888943). ClinVar contains an entry for this variant (Variation ID: 1481575). 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 not expected to disrupt ITK protein function. 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.
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut RCV002251774 SCV002522162 uncertain significance Vitiligo-associated multiple autoimmune disease susceptibility 1 no assertion criteria provided clinical testing

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