ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.418G>T (p.Glu140Ter)

dbSNP: rs2144749282
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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 RCV001951052 SCV002243114 pathogenic Mucopolysaccharidosis, MPS-III-A 2021-02-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu140*) 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). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SGSH-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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