ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.645C>A (p.Tyr215Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003472707 SCV004201081 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2023-10-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003472707 SCV004269613 pathogenic Mucopolysaccharidosis, MPS-III-A 2023-06-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SGSH-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr215*) 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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