ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.250-289_463del

dbSNP: rs2144748721
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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 RCV001892606 SCV002148917 pathogenic Mucopolysaccharidosis, MPS-III-A 2021-08-02 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.Phe101Ser) have been determined to be pathogenic (PMID: 28283807). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with SGSH-related conditions. This variant is not present in population databases (ExAC no frequency). This variant results in the deletion of exon 3 and part of exon 4 (c.250-289_463del) of the SGSH gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SGSH are known to be pathogenic (PMID: 11182930, 21204211, 22976768).

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