ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.332dup (p.Tyr111Ter)

gnomAD frequency: 0.00001  dbSNP: rs1683047204
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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 RCV001951286 SCV002238719 pathogenic GM3 synthase deficiency 2023-04-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1456729). This variant has not been reported in the literature in individuals affected with ST3GAL5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr111*) in the ST3GAL5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ST3GAL5 are known to be pathogenic (PMID: 15502825, 22990144, 27232954).

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