ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.895dup (p.Ile299fs)

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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 RCV003614484 SCV004395769 pathogenic GM3 synthase deficiency 2023-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile299Asnfs*22) 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). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ST3GAL5-related conditions. For these reasons, this variant has been classified as Pathogenic.

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