ClinVar Miner

Submissions for variant NM_018389.5(SLC35C1):c.841G>A (p.Gly281Ser)

gnomAD frequency: 0.00001  dbSNP: rs1410328784
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823489 SCV002072960 uncertain significance Leukocyte adhesion deficiency type II criteria provided, single submitter clinical testing The missense variant p.G281S in SLC35C1 (NM_018389.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.G281S variant is observed in 1/16,216 (0.0062%) alleles from individuals of African background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.G281S missense variant is predicted to be damaging by both SIFT and PolyPhen2. The glycine residue at codon 281 of SLC35C1 is conserved in all mammalian species. The nucleotide c.841 in SLC35C1 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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