ClinVar Miner

Submissions for variant NM_018389.5(SLC35C1):c.872C>T (p.Thr291Ile)

gnomAD frequency: 0.00001  dbSNP: rs751828447
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000197101 SCV000255468 likely pathogenic Leukocyte adhesion deficiency type II 2012-11-27 criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000197101 SCV001430130 likely pathogenic Leukocyte adhesion deficiency type II 2019-07-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000197101 SCV005819490 uncertain significance Leukocyte adhesion deficiency type II 2024-07-25 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 291 of the SLC35C1 protein (p.Thr291Ile). This variant is present in population databases (rs751828447, gnomAD 0.006%). This missense change has been observed in individual(s) with SLC35C1-related conditions (PMID: 25326637). ClinVar contains an entry for this variant (Variation ID: 216999). 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 SLC35C1 protein function with a positive predictive value of 80%. 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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