ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.682_740del (p.Pro228fs)

dbSNP: rs2130745878
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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 RCV001389504 SCV001590896 pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2020-02-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in HGSNAT are known to be pathogenic (PMID: 17033958, 19479962). This variant has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 17397050). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro228Glyfs*32) in the HGSNAT gene. It is expected to result in an absent or disrupted protein product.

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