ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.32_39del (p.Arg11fs)

dbSNP: rs2104282063
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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 RCV001388850 SCV001590000 pathogenic GM3 synthase deficiency 2020-02-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg11Profs*19) in the ST3GAL5 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with ST3GAL5-related conditions. 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.

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