ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.100T>G (p.Phe34Val)

gnomAD frequency: 0.00001  dbSNP: rs201603239
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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 RCV000818608 SCV000959230 uncertain significance Biotin-responsive basal ganglia disease 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with valine at codon 34 of the SLC19A3 protein (p.Phe34Val). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and valine. This variant is present in population databases (rs201603239, ExAC 0.004%). This variant has not been reported in the literature in individuals affected with SLC19A3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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