ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.466A>T (p.Lys156Ter)

dbSNP: rs2041818115
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001389566 SCV001590961 pathogenic Mucopolysaccharidosis, MPS-III-A 2023-08-02 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1075867). This variant has not been reported in the literature in individuals affected with SGSH-related conditions. This sequence change creates a premature translational stop signal (p.Lys156*) 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).
Baylor Genetics RCV001389566 SCV004201137 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2022-11-30 criteria provided, single submitter clinical testing

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