ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.1475_1482dup (p.Lys495fs)

dbSNP: rs1387251145
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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 RCV001036230 SCV001199582 uncertain significance Biotin-responsive basal ganglia disease 2019-11-18 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. This variant has not been reported in the literature in individuals with SLC19A3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the SLC19A3 gene (p.Lys495Cysfs*21). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2 amino acids of the SLC19A3 protein and extend the protein by an additional 18 amino acids.

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