ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.963C>G (p.Ile321Met)

dbSNP: rs1395818245
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038591 SCV001202069 uncertain significance GM3 synthase deficiency 2019-03-15 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 321 of the ST3GAL5 protein (p.Ile321Met). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ST3GAL5-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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