ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.490C>T (p.Gln164Ter)

dbSNP: rs1598749661
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810296 SCV000950490 pathogenic Mucopolysaccharidosis, MPS-III-A 2023-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln164*) 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. ClinVar contains an entry for this variant (Variation ID: 654350). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000810296 SCV004201147 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2022-04-26 criteria provided, single submitter clinical testing

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