ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.751A>G (p.Ser251Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002591494 SCV003495831 uncertain significance Biotin-responsive basal ganglia disease 2022-09-01 criteria provided, single submitter clinical testing 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. 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 SLC19A3 protein function. This variant has not been reported in the literature in individuals affected with SLC19A3-related conditions. This variant is present in population databases (rs376021977, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 251 of the SLC19A3 protein (p.Ser251Gly).

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