ClinVar Miner

Submissions for variant NM_006279.5(ST3GAL3):c.396A>G (p.Gln132=)

dbSNP: rs1558764772
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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 RCV001923986 SCV002199001 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-06-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with ST3GAL3-related conditions. This sequence change affects codon 132 of the ST3GAL3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ST3GAL3 protein. It affects a nucleotide within the consensus splice site.

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