ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1429del (p.Asp477fs)

gnomAD frequency: 0.00001  dbSNP: rs781572815
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667882 SCV000792394 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2017-06-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667882 SCV003443325 pathogenic Mucopolysaccharidosis, MPS-III-A 2024-08-11 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the SGSH gene (p.Asp477Thrfs*114). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 26 amino acid(s) of the SGSH protein and extend the protein by 87 additional amino acid residues. This variant is present in population databases (rs781572815, gnomAD 0.002%). This frameshift has been observed in individual(s) with mucopolysaccharidosis (PMID: 22976768). ClinVar contains an entry for this variant (Variation ID: 552591). 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. For these reasons, this variant has been classified as Pathogenic.

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