ClinVar Miner

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

dbSNP: rs1555620092
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Total submissions: 4
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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 pathogenic Mucopolysaccharidosis, MPS-III-A 2023-03-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 556145). This variant has not been reported in the literature in individuals affected with SGSH-related conditions. This variant is not present in population databases (gnomAD no frequency). 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 acid(s) of the SGSH protein and extend the protein by 87 additional amino acid residues.
Genome-Nilou Lab RCV000672103 SCV002045079 uncertain significance Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV000672103 SCV004201135 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2022-12-05 criteria provided, single submitter clinical testing

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