ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1348del (p.Asp450fs)

gnomAD frequency: 0.00001  dbSNP: rs771455190
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001387361 SCV001587975 pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2023-07-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp450Ilefs*32) 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 (rs771455190, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type IIIC (PMID: 28397838, 31228227). ClinVar contains an entry for this variant (Variation ID: 1074147). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001387361 SCV002810897 pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2021-11-11 criteria provided, single submitter clinical testing
GeneDx RCV003106224 SCV003762019 pathogenic not provided 2023-01-30 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 19479962, 17033958, 28397838, 34374989, 31228227)
Revvity Omics, Revvity Omics RCV003106224 SCV003822750 pathogenic not provided 2022-05-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826176 SCV002083314 pathogenic Mucopolysaccharidosis, MPS-III-C 2021-03-28 no assertion criteria provided clinical testing

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