ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1048C>T (p.Gln350Ter)

dbSNP: rs752939204
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791142 SCV000930416 pathogenic Mucopolysaccharidosis, MPS-III-C 2019-04-27 criteria provided, single submitter clinical testing
Invitae RCV003768479 SCV004585930 pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2023-11-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln350*) 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 (rs752939204, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with autosomal recessive retinitis pigmentosa (PMID: 32347150). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 638471). For these reasons, this variant has been classified as Pathogenic.
Dept Of Ophthalmology, Nagoya University RCV003889987 SCV004706040 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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