ClinVar Miner

Submissions for variant NM_006279.5(ST3GAL3):c.989A>G (p.Asn330Ser)

gnomAD frequency: 0.00001  dbSNP: rs370499935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001372567 SCV001569240 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-08-17 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: 1062810). This missense change has been observed in individual(s) with clinical features of ST3GAL3-related conditions (Invitae). This variant is present in population databases (rs370499935, gnomAD 0.003%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 330 of the ST3GAL3 protein (p.Asn330Ser).
Ambry Genetics RCV002550159 SCV003547608 uncertain significance Inborn genetic diseases 2021-08-23 criteria provided, single submitter clinical testing The c.989A>G (p.N330S) alteration is located in exon 11 (coding exon 10) of the ST3GAL3 gene. This alteration results from a A to G substitution at nucleotide position 989, causing the asparagine (N) at amino acid position 330 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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