ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.402dup (p.Asp135Ter)

dbSNP: rs1598749984
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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 RCV000800338 SCV000940046 pathogenic Mucopolysaccharidosis, MPS-III-A 2020-10-07 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 with SGSH-related conditions. ClinVar contains an entry for this variant (Variation ID: 646114). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp135*) 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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