ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.189C>A (p.Tyr63Ter)

dbSNP: rs1559250774
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760653 SCV000890545 pathogenic not provided 2023-12-08 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001387186 SCV001587749 pathogenic Biotin-responsive basal ganglia disease 2020-07-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLC19A3 are known to be pathogenic (PMID: 23423671, 23482991). This variant has not been reported in the literature in individuals with SLC19A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 620288). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr63*) in the SLC19A3 gene. It is expected to result in an absent or disrupted protein product.

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