ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter)

dbSNP: rs1567914459
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS RCV000758005 SCV000882527 likely pathogenic Mucopolysaccharidosis, MPS-III-A criteria provided, single submitter research
Invitae RCV000758005 SCV002222835 pathogenic Mucopolysaccharidosis, MPS-III-A 2023-08-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SGSH protein in which other variant(s) (p.Trp479*) 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. ClinVar contains an entry for this variant (Variation ID: 619124). 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.Gln459*) in the SGSH gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 44 amino acid(s) of the SGSH protein.
Baylor Genetics RCV000758005 SCV004201096 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2023-09-14 criteria provided, single submitter clinical testing

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