ClinVar Miner

Submissions for variant NM_138459.5(NUS1):c.482del (p.Gly161fs)

dbSNP: rs2482014199
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003026908 SCV003328420 pathogenic Congenital disorder of glycosylation, type IAA 2022-03-15 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly161Alafs*2) in the NUS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NUS1 are known to be pathogenic (PMID: 29100083). This variant has not been reported in the literature in individuals affected with NUS1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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