ClinVar Miner

Submissions for variant NM_006996.3(SLC19A2):c.1450A>T (p.Lys484Ter)

gnomAD frequency: 0.00003  dbSNP: rs768199279
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001665342 SCV001872683 uncertain significance not provided 2021-08-21 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge

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