ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.482T>C (p.Leu161Ser)

gnomAD frequency: 0.00005  dbSNP: rs749604833
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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 RCV001215150 SCV001386879 uncertain significance Biotin-responsive basal ganglia disease 2021-11-01 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 161 of the SLC19A3 protein (p.Leu161Ser). This variant is present in population databases (rs749604833, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SLC19A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 944693). 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 expected to disrupt SLC19A3 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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