ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.10A>T (p.Lys4Ter)

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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 RCV003505521 SCV004252872 pathogenic GM3 synthase deficiency 2023-06-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys4*) 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). For these reasons, this variant has been classified as Pathogenic. 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).

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