ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.739del (p.Arg247fs) (rs1085307880)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489181 SCV000577561 pathogenic not provided 2020-11-04 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 in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 17397050, 19479962, 31228227)
Counsyl RCV000666153 SCV000790398 pathogenic Mucopolysaccharidosis, MPS-III-C 2017-03-17 criteria provided, single submitter clinical testing
Invitae RCV000691847 SCV000819643 pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2018-05-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg247Glyfs*29) in the HGSNAT gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with mucopolysaccharidosis type IIIC (PMID: 19479962, Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. This variant has been observed to be homozygous or in combination with another HGSNAT variant in an individuals affected with mucopolysaccharidosis type IIIC (PMID: 17397050, 19479962). ClinVar contains an entry for this variant (Variation ID: 426971). Loss-of-function variants in HGSNAT are known to be pathogenic (PMID: 17033958, 19479962, 25859010). For these reasons, this variant has been classified as Pathogenic.

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