ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.147G>A (p.Trp49Ter)

gnomAD frequency: 0.00001  dbSNP: rs778265926
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000694414 SCV000822859 pathogenic GM3 synthase deficiency 2024-02-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp49*) 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 (rs778265926, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ST3GAL5-related conditions. ClinVar contains an entry for this variant (Variation ID: 572904). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002245597 SCV002513753 likely pathogenic not provided 2022-05-11 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV000694414 SCV005656877 likely pathogenic GM3 synthase deficiency 2024-04-05 criteria provided, single submitter clinical testing

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