ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.1443_1444del (p.His483fs)

dbSNP: rs2106317211
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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 RCV001940022 SCV002180677 uncertain significance Biotin-responsive basal ganglia disease 2021-02-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SLC19A3-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His483Profs*6) in the SLC19A3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 14 amino acid(s) of the SLC19A3 protein.

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