ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.506+1G>A

dbSNP: rs763063355
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001942694 SCV002136031 pathogenic Mucopolysaccharidosis, MPS-III-A 2023-11-08 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 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 present in population databases (rs763063355, gnomAD 0.003%). Disruption of this splice site has been observed in individual(s) with mucopolysaccharidosis type IIIA (Invitae). ClinVar contains an entry for this variant (Variation ID: 1365580). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001942694 SCV002812123 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2022-02-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV001942694 SCV004201093 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2023-09-17 criteria provided, single submitter clinical testing

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