ClinVar Miner

Submissions for variant NM_018344.6(SLC29A3):c.1010C>T (p.Ser337Leu)

gnomAD frequency: 0.00004  dbSNP: rs200249218
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808166 SCV000948260 uncertain significance H syndrome 2022-09-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 337 of the SLC29A3 protein (p.Ser337Leu). This variant is present in population databases (rs200249218, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with SLC29A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 652586). 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 SLC29A3 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.

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