ClinVar Miner

Submissions for variant NM_018389.5(SLC35C1):c.641T>C (p.Ile214Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV004765412 SCV005375226 uncertain significance Leukocyte adhesion deficiency type II 2024-10-13 criteria provided, single submitter clinical testing This variant (GRCh38; NM_001145266.1:c.602T>C:p.Ile201Thr) results in a missense mutation with the conversion of Isoleucine (Nonpolar amino acid) to Threonine (Polar amino acid) in the SLC35C1 gene. his variant has a strong Conservation score. In-silico analysis supports that this missense variant is pathogenic. Not observed at significant frequency in large population cohorts (gnomAD) To our knowledge this variant not been previously curated or reported in public Database. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. A literature search was performed for the gene and associated variants. Based on this search no publications were found. This variant is therefore classified as variant of Unknown Clinical Significance.

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