ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.870A>G (p.Ala290=)

gnomAD frequency: 0.00019  dbSNP: rs141190841
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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 RCV000640715 SCV000762313 likely benign Biotin-responsive basal ganglia disease 2023-12-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004755998 SCV005363400 likely benign SLC19A3-related disorder 2024-06-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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