ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.859G>A (p.Ala287Thr)

gnomAD frequency: 0.00002  dbSNP: rs780058786
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196028 SCV000250718 uncertain significance not provided 2017-03-20 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SLC2A10 gene. The A287T variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A287T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Additionally, this substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function.
Invitae RCV001853164 SCV002221844 uncertain significance Arterial tortuosity syndrome 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 287 of the SLC2A10 protein (p.Ala287Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs780058786, ExAC 0.003%). This variant has not been reported in the literature in individuals with SLC2A10-related conditions. ClinVar contains an entry for this variant (Variation ID: 213730). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SLC2A10 protein function. 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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