ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1375A>G (p.Asn459Asp)

dbSNP: rs781676521
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001874168 SCV002120656 uncertain significance Arterial tortuosity syndrome 2021-05-02 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 459 of the SLC2A10 protein (p.Asn459Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is present in population databases (rs781676521, ExAC 0.001%). 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 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.
Revvity Omics, Revvity RCV001874168 SCV004237325 uncertain significance Arterial tortuosity syndrome 2023-05-16 criteria provided, single submitter clinical testing

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