ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.398del (p.Pro133fs)

dbSNP: rs2144749648
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001903781 SCV002170230 pathogenic Mucopolysaccharidosis, MPS-III-A 2022-09-26 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro133Argfs*131) 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 has not been reported in the literature in individuals affected with SGSH-related conditions. ClinVar contains an entry for this variant (Variation ID: 1405407). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001903781 SCV005056732 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2024-02-18 criteria provided, single submitter clinical testing

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