ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.1343T>C (p.Val448Ala)

gnomAD frequency: 0.00006  dbSNP: rs201544540
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000924786 SCV001070308 likely benign Biotin-responsive basal ganglia disease 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001664551 SCV001872803 uncertain significance not provided 2024-01-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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