ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.957T>G (p.Phe319Leu)

gnomAD frequency: 0.00001  dbSNP: rs747318909
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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 RCV001304861 SCV001494164 uncertain significance GM3 synthase deficiency 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 319 of the ST3GAL5 protein (p.Phe319Leu). This variant is present in population databases (rs747318909, gnomAD 0.06%). 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: 1007646). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV002544985 SCV003683720 uncertain significance Inborn genetic diseases 2021-08-30 criteria provided, single submitter clinical testing The c.957T>G (p.F319L) alteration is located in exon 6 (coding exon 6) of the ST3GAL5 gene. This alteration results from a T to G substitution at nucleotide position 957, causing the phenylalanine (F) at amino acid position 319 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect - Brain Gene Registry RCV002464446 SCV002760027 not provided not provided no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 12-08-2021 by Lab or GTR ID 500031. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator John Constantino MD PhD from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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