ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.247C>T (p.Leu83Phe)

gnomAD frequency: 0.00006  dbSNP: rs146955794
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206175 SCV001377471 uncertain significance GM3 synthase deficiency 2022-03-18 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 83 of the ST3GAL5 protein (p.Leu83Phe). This variant is present in population databases (rs146955794, 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: 626023). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001206175 SCV003920510 uncertain significance GM3 synthase deficiency 2021-03-30 criteria provided, single submitter clinical testing ST3GAL5 NM_003896.3 exon 3 p.Leu83Phe (c.247C>T): This variant has not been reported in the literature, but it is present in 5/24014 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/2-86088375-G-A). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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