ClinVar Miner

Submissions for variant NM_006279.5(ST3GAL3):c.502G>A (p.Val168Ile)

gnomAD frequency: 0.00005  dbSNP: rs758155830
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733636 SCV001984366 uncertain significance Developmental and epileptic encephalopathy, 15 2020-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002538724 SCV003021233 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-02-11 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1301687). This variant has not been reported in the literature in individuals affected with ST3GAL3-related conditions. This variant is present in population databases (rs758155830, gnomAD 0.006%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 168 of the ST3GAL3 protein (p.Val168Ile).

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