ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1286del (p.His429fs)

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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 RCV003505831 SCV004365466 pathogenic Mucopolysaccharidosis, MPS-III-A 2023-12-20 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the SGSH gene (p.His429Leufs*162). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 74 amino acid(s) of the SGSH protein and extend the protein by 87 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SGSH-related conditions. This variant disrupts a region of the SGSH protein in which other variant(s) (p.Asp477Glu) have been determined to be pathogenic (PMID: 21204211; Invitae). 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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