ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter)

gnomAD frequency: 0.00001  dbSNP: rs1323958195
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671608 SCV000796596 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2017-12-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV000671608 SCV004201078 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2023-10-13 criteria provided, single submitter clinical testing
Invitae RCV000671608 SCV004454424 pathogenic Mucopolysaccharidosis, MPS-III-A 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln409*) in the SGSH gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 94 amino acid(s) of the SGSH protein. This variant is present in population databases (no rsID available, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with SGSH-related conditions. ClinVar contains an entry for this variant (Variation ID: 555736). This variant disrupts a region of the SGSH protein in which other variant(s) (p.W479*) have been determined to be pathogenic (PMID: 21204211). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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