ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs)

gnomAD frequency: 0.00001  dbSNP: rs483352894
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000001290 SCV000474016 pathogenic Mucopolysaccharidosis, MPS-III-C 2024-07-22 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000001290 SCV000784408 pathogenic Mucopolysaccharidosis, MPS-III-C 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662072 SCV000784409 pathogenic Retinitis pigmentosa 73 2018-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001390806 SCV001592654 pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2023-12-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp449Glyfs*21) in the HGSNAT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HGSNAT are known to be pathogenic (PMID: 17033958, 19479962). This variant is present in population databases (rs483352894, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type IIIC (PMID: 16960811, 19479962, 31228227). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1231). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001290 SCV000021440 pathogenic Mucopolysaccharidosis, MPS-III-C 2006-10-01 no assertion criteria provided literature only

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