ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1217C>A (p.Ala406Glu)

dbSNP: rs752635709
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002046103 SCV002308809 uncertain significance Arterial tortuosity syndrome 2021-02-02 criteria provided, single submitter clinical testing 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. This sequence change replaces alanine with glutamic acid at codon 406 of the SLC2A10 protein (p.Ala406Glu). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and glutamic acid. This variant is present in population databases (rs752635709, ExAC 0.002%). This variant has not been reported in the literature in individuals with SLC2A10-related conditions. 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 not expected to disrupt SLC2A10 protein function.

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