ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1726+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003781090 SCV004569758 likely pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2024-01-18 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 17 of the HGSNAT gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 18024218). This variant is also known as c.1810+1G>A,p.S567NfsX14. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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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