ClinVar Miner

Submissions for variant NM_001257180.2(SLC20A2):c.56T>C (p.Ile19Thr)

gnomAD frequency: 0.00002  dbSNP: rs1034887212
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001800130 SCV002044253 uncertain significance not provided 2021-06-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Baylor Genetics RCV004564714 SCV005049788 uncertain significance Idiopathic basal ganglia calcification 1 2024-02-15 criteria provided, single submitter clinical testing

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