ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.356-1G>A

dbSNP: rs1555621984
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669340 SCV000794085 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2017-09-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000669340 SCV002021247 pathogenic Mucopolysaccharidosis, MPS-III-A 2020-03-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669340 SCV002314910 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2022-02-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 553818). This sequence change affects an acceptor splice site in intron 3 of the SGSH gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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