ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1380del (p.Leu461fs) (rs1555620092)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672103 SCV000797168 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2018-01-16 criteria provided, single submitter clinical testing
Invitae RCV000672103 SCV001487460 uncertain significance Mucopolysaccharidosis, MPS-III-A 2020-03-05 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the SGSH gene (p.Leu461Trpfs*130). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 42 amino acids of the SGSH protein and extend the protein by an additional 87 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SGSH-related conditions. ClinVar contains an entry for this variant (Variation ID: 556145). This variant disrupts the C-terminus of the SGSH protein. Other variant(s) that disrupt this region (p.Trp479*, p.Glu489*, p.Asp477Thrfs*114, p.His476Thrfs*115) have been observed in individuals with SGSH-related conditions (PMID: 21204211, 22976768). 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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