ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.630G>A (p.Trp210Ter)

dbSNP: rs373031930
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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 RCV001385410 SCV001585246 pathogenic Mucopolysaccharidosis, MPS-III-A 2021-02-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SGSH are known to be pathogenic (PMID: 11182930, 21204211, 22976768). This nonsense change has been observed in individual(s) with Sanfilippo syndrome (PMID: 9285796). This variant is present in population databases (rs373031930, ExAC 0.002%). This sequence change creates a premature translational stop signal (p.Trp210*) in the SGSH gene. It is expected to result in an absent or disrupted protein product.

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