ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.1257del (p.Ile420fs)

dbSNP: rs2106318158
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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 RCV001386752 SCV001587100 pathogenic Biotin-responsive basal ganglia disease 2022-11-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1073682). This variant has not been reported in the literature in individuals affected with SLC19A3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile420Serfs*2) 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).

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