ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter) (rs747240928)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667348 SCV000791782 pathogenic Mucopolysaccharidosis, MPS-III-C 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV001040598 SCV001204182 pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2020-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg506*) in the HGSNAT gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs747240928, ExAC 0.002%). This variant has been observed in individuals with mucopolysaccharidosis type III C (PMID: 17033958, 17033958). ClinVar contains an entry for this variant (Variation ID: 552134). Loss-of-function variants in HGSNAT are known to be pathogenic (PMID: 17033958, 19479962). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001556095 SCV001777613 pathogenic not provided 2020-06-15 criteria provided, single submitter clinical testing Nonsense 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 in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 21384162, 19479962, 17033958, 25525159)

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