ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.582T>A (p.Cys194Ter) (rs1555621659)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673158 SCV000798330 pathogenic Mucopolysaccharidosis, MPS-III-A 2018-03-09 criteria provided, single submitter clinical testing
GeneDx RCV001571102 SCV001795515 pathogenic not provided 2020-04-20 no assertion criteria provided clinical testing Identified in two unrelated individuals with clinical features of mucopolysaccharidosis type IIIA who also possessed a second SGSH variant in published literature (Pollard et al., 2013); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 22976768)

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