ClinVar Miner

Submissions for variant NM_018389.5(SLC35C1):c.19A>G (p.Lys7Glu)

gnomAD frequency: 0.00007  dbSNP: rs771361211
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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 RCV001050132 SCV001214226 uncertain significance Leukocyte adhesion deficiency type II 2022-06-07 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 7 of the SLC35C1 protein (p.Lys7Glu). This variant is present in population databases (rs771361211, 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: 846744). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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