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
Labcorp Genetics (formerly Invitae), Labcorp RCV000810296 SCV000950490 pathogenic Mucopolysaccharidosis, MPS-III-A 2023-02-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 654350). This variant has not been reported in the literature in individuals affected with SGSH-related conditions. This variant is not present in population databases (gnomAD no frequency). 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).
Baylor Genetics RCV000810296 SCV004201147 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2022-04-26 criteria provided, single submitter clinical testing

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