ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.124del (p.Cys42fs)

dbSNP: rs777319882
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061697 SCV001226448 pathogenic GM3 synthase deficiency 2024-01-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys42Alafs*16) 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 (rs777319882, gnomAD 0.02%). 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: 856273). For these reasons, this variant has been classified as Pathogenic.
Athena Diagnostics Inc RCV001664651 SCV001879897 likely pathogenic not provided 2020-09-22 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org).

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