ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1204G>A (p.Ala402Thr) (rs147710229)

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Total submissions: 2
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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
Invitae RCV001035084 SCV001198398 uncertain significance Arterial tortuosity syndrome 2019-09-16 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 402 of the SLC2A10 protein (p.Ala402Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs147710229, ExAC 0.03%). This variant has not been reported in the literature in individuals with SLC2A10-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Benign; Align-GVGD: Class C0. The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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