ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1091_1103del (p.Ser364fs)

dbSNP: rs1567915763
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002004969 SCV002235886 pathogenic Mucopolysaccharidosis, MPS-III-A 2024-03-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser364Thrfs*45) in the SGSH gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 139 amino acid(s) of the SGSH protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 1450886). This variant disrupts a region of the SGSH protein in which other variant(s) (p.Val379Cysfs*34) have been determined to be pathogenic (PMID: 9285796, 15146460, 24875751). 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.
Baylor Genetics RCV002004969 SCV004201139 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2022-09-08 criteria provided, single submitter clinical testing

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