ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.7_16del (p.Cys3fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003472715 SCV004201113 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2023-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003472715 SCV005741915 pathogenic Mucopolysaccharidosis, MPS-III-A 2024-07-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys3Profs*8) in the SGSH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGSH are known to be pathogenic (PMID: 11182930, 21204211, 22976768). 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. For these reasons, this variant has been classified as Pathogenic.

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