ClinVar Miner

Submissions for variant NM_018389.5(SLC35C1):c.116T>C (p.Leu39Ser)

gnomAD frequency: 0.00001  dbSNP: rs771587118
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000636676 SCV000758116 uncertain significance Leukocyte adhesion deficiency type II 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 39 of the SLC35C1 protein (p.Leu39Ser). This variant is present in population databases (rs771587118, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with SLC35C1-related conditions. ClinVar contains an entry for this variant (Variation ID: 530695). 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 SLC35C1 protein function with a negative 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.
Fulgent Genetics, Fulgent Genetics RCV000636676 SCV002783721 uncertain significance Leukocyte adhesion deficiency type II 2022-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002529853 SCV003684477 uncertain significance Inborn genetic diseases 2021-12-08 criteria provided, single submitter clinical testing The c.116T>C (p.L39S) alteration is located in exon 1 (coding exon 1) of the SLC35C1 gene. This alteration results from a T to C substitution at nucleotide position 116, causing the leucine (L) at amino acid position 39 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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