ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1298G>A (p.Trp433Ter)

dbSNP: rs398124397
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174163 SCV000225416 pathogenic not provided 2013-08-28 criteria provided, single submitter clinical testing
Invitae RCV002513847 SCV002952946 pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2023-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp433*) in the GNPTAB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GNPTAB are known to be pathogenic (PMID: 19617216, 25107912). This variant is present in population databases (rs398124397, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with GNPTAB-related conditions. ClinVar contains an entry for this variant (Variation ID: 96117). For these reasons, this variant has been classified as Pathogenic.

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