ClinVar Miner

Submissions for variant NM_018389.5(SLC35C1):c.778C>T (p.Gln260Ter)

dbSNP: rs1470970903
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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 RCV002048367 SCV002299638 pathogenic Leukocyte adhesion deficiency type II 2023-07-14 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SLC35C1 protein in which other variant(s) (Thr308Arg) have been determined to be pathogenic (PMID: 11326280, 12116250). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1514864). This variant has not been reported in the literature in individuals affected with SLC35C1-related conditions. This sequence change creates a premature translational stop signal (p.Gln260*) in the SLC35C1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 105 amino acid(s) of the SLC35C1 protein.

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