ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1445_1446insT (p.Asp484fs)

dbSNP: rs1555620043
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674453 SCV000799791 uncertain significance Mucopolysaccharidosis, MPS-III-A 2018-05-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000674453 SCV002045120 uncertain significance Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing
Invitae RCV000674453 SCV002999605 uncertain significance Mucopolysaccharidosis, MPS-III-A 2022-05-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp484Argfs*18) in the SGSH gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 19 amino acid(s) of the SGSH protein. 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. ClinVar contains an entry for this variant (Variation ID: 558220). This variant disrupts the C-terminus of the SGSH protein. Other variant(s) that disrupt this region (p.Glu489*, p.Gln496*) have been observed in individuals with SGSH-related conditions (PMID: 21204211, 32036093). This suggests that this may be a clinically significant region of the protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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