ClinVar Miner

Submissions for variant NM_018713.3(SLC30A10):c.1006C>T (p.His336Tyr)

dbSNP: rs770740586
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000417081 SCV002023552 likely pathogenic Hypermanganesemia with dystonia, polycythemia, and cirrhosis 2021-09-02 criteria provided, single submitter clinical testing
3billion, Medical Genetics RCV000417081 SCV002572886 uncertain significance Hypermanganesemia with dystonia, polycythemia, and cirrhosis 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.60; 3Cnet: 0.47). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with SLC30A10 -related disorder (ClinVar ID: VCV000375609 / PMID: 27117033). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
GeneReviews RCV000417081 SCV000494641 not provided Hypermanganesemia with dystonia, polycythemia, and cirrhosis no assertion provided literature only

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