ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1412G>A (p.Trp471Ter)

dbSNP: rs2144689256
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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 RCV001389672 SCV001591121 pathogenic Mucopolysaccharidosis, MPS-III-A 2020-09-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the SGSH protein. Other variant(s) that disrupt this region (p.Trp479*) have been determined to be pathogenic (PMID: 21204211). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with SGSH-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the SGSH gene (p.Trp471*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acids of the SGSH protein.
Baylor Genetics RCV001389672 SCV005056737 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2024-02-02 criteria provided, single submitter clinical testing

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