ClinVar Miner

Submissions for variant NM_006279.5(ST3GAL3):c.637G>A (p.Ala213Thr)

gnomAD frequency: 0.00001  dbSNP: rs780493101
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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 RCV000808188 SCV000948284 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-10-05 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ST3GAL3 protein function. ClinVar contains an entry for this variant (Variation ID: 652603). This variant has not been reported in the literature in individuals affected with ST3GAL3-related conditions. This variant is present in population databases (rs780493101, gnomAD 0.05%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 213 of the ST3GAL3 protein (p.Ala213Thr).
Ambry Genetics RCV003279088 SCV003977924 uncertain significance Inborn genetic diseases 2023-05-17 criteria provided, single submitter clinical testing The c.637G>A (p.A213T) alteration is located in exon 9 (coding exon 8) of the ST3GAL3 gene. This alteration results from a G to A substitution at nucleotide position 637, causing the alanine (A) at amino acid position 213 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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