ClinVar Miner

Submissions for variant NM_018344.6(SLC29A3):c.59C>G (p.Thr20Arg)

gnomAD frequency: 0.00001  dbSNP: rs754138983
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206948 SCV001378282 uncertain significance H syndrome 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces threonine with arginine at codon 20 of the SLC29A3 protein (p.Thr20Arg). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and arginine. This variant is present in population databases (rs754138983, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with SLC29A3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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