ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.120C>G (p.Tyr40Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003506593 SCV004296896 pathogenic Mucopolysaccharidosis, MPS-III-A 2023-02-26 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 15902564). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr40*) in the SGSH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGSH are known to be pathogenic (PMID: 11182930, 21204211, 22976768).

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