ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.111del (p.Tyr38fs) (rs1559252723)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000721987 SCV001579928 pathogenic Biotin-responsive basal ganglia disease 2020-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr38Ilefs*9) in the SLC19A3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC19A3 are known to be pathogenic (PMID: 23423671, 23482991). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC19A3-related conditions. ClinVar contains an entry for this variant (Variation ID: 590823). For these reasons, this variant has been classified as Pathogenic.
SingHealth Duke-NUS Institute of Precision Medicine RCV000721987 SCV000853142 likely pathogenic Biotin-responsive basal ganglia disease 2017-06-07 no assertion criteria provided curation

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