ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.541C>T (p.His181Tyr)

gnomAD frequency: 0.00007  dbSNP: rs750698842
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000306649 SCV000342395 uncertain significance not provided 2016-07-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855205 SCV002169729 uncertain significance GM3 synthase deficiency 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 181 of the ST3GAL5 protein (p.His181Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is present in population databases (rs750698842, ExAC 0.003%). 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: 288317). 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 C15"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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