ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1204G>A (p.Ala402Thr)

gnomAD frequency: 0.00011  dbSNP: rs147710229
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770708 SCV000902185 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001035084 SCV001198398 uncertain significance Arterial tortuosity syndrome 2022-06-26 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 402 of the SLC2A10 protein (p.Ala402Thr). This variant is present in population databases (rs147710229, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SLC2A10-related conditions. ClinVar contains an entry for this variant (Variation ID: 626895). 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. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002265875 SCV002547604 uncertain significance not specified 2022-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000770708 SCV002654133 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-09-30 criteria provided, single submitter clinical testing The p.A402T variant (also known as c.1204G>A), located in coding exon 2 of the SLC2A10 gene, results from a G to A substitution at nucleotide position 1204. The alanine at codon 402 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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