ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1102A>T (p.Lys368Ter) (rs954238515)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414027 SCV000492057 likely pathogenic not provided 2018-08-03 criteria provided, single submitter clinical testing The K368X variant in the HGSNAT gene has not been reported previously as a pathogenic variant nor as a benignvariant, to our knowledge. This variant is predicted to cause loss of normal protein function either through proteintruncation or nonsense-mediated mRNA decay. The K368X variant was not observed in approximately 6200individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is nota common benign variant in these populations. The K368X variant is a strong candidate for a pathogenic variant,however the possibility it may be a rare benign variant cannot be excluded.
Invitae RCV001389727 SCV001591180 pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2020-10-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys368*) 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 not been reported in the literature in individuals with HGSNAT-related conditions. ClinVar contains an entry for this variant (Variation ID: 373465). Loss-of-function variants in HGSNAT are known to be pathogenic (PMID: 17033958, 19479962). For these reasons, this variant has been classified as Pathogenic.

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