ClinVar Miner

Submissions for variant NM_006279.5(ST3GAL3):c.401A>G (p.Asn134Ser)

dbSNP: rs745451424
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504391 SCV000597280 uncertain significance not specified 2016-06-02 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678852 SCV000805043 uncertain significance Epilepsy due to perinatal stroke 2017-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857172 SCV002201956 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-06-20 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: 436873). This variant has not been reported in the literature in individuals affected with ST3GAL3-related conditions. This variant is present in population databases (rs745451424, gnomAD 0.003%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 134 of the ST3GAL3 protein (p.Asn134Ser).
Revvity Omics, Revvity RCV003139706 SCV003825833 uncertain significance not provided 2019-11-25 criteria provided, single submitter clinical testing

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