ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.187T>C (p.Tyr63His)

gnomAD frequency: 0.00059  dbSNP: rs144817990
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193057 SCV000248897 uncertain significance not specified 2014-11-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000806997 SCV000947022 uncertain significance Biotin-responsive basal ganglia disease 2022-10-03 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 63 of the SLC19A3 protein (p.Tyr63His). This variant is present in population databases (rs144817990, gnomAD 0.2%). 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: 212193). 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.
GeneDx RCV001561553 SCV001784179 uncertain significance not provided 2024-09-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28402605)
PreventionGenetics, part of Exact Sciences RCV003917774 SCV004732551 likely benign SLC19A3-related disorder 2022-02-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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