ClinVar Miner

Submissions for variant NM_018389.5(SLC35C1):c.1055C>A (p.Pro352His)

gnomAD frequency: 0.00011  dbSNP: rs200843978
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424691 SCV000534855 uncertain significance not provided 2017-11-21 criteria provided, single submitter clinical testing The P352H variant in the SLC35C1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P352H variant was not observed at any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The P352H variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret P352H as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV000763740 SCV000894625 uncertain significance Leukocyte adhesion deficiency type II 2021-10-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000763740 SCV000932025 uncertain significance Leukocyte adhesion deficiency type II 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 352 of the SLC35C1 protein (p.Pro352His). This variant is present in population databases (rs200843978, gnomAD 0.02%). 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: 391722). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004668972 SCV005166849 uncertain significance Inborn genetic diseases 2024-05-10 criteria provided, single submitter clinical testing The c.1055C>A (p.P352H) alteration is located in exon 2 (coding exon 2) of the SLC35C1 gene. This alteration results from a C to A substitution at nucleotide position 1055, causing the proline (P) at amino acid position 352 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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