ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.850del (p.Thr284fs)

dbSNP: rs34517004
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001852636 SCV002246389 pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2022-02-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr284Leufs*5) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of mucolipidosis type II (PMID: 16465621). This variant is also known as FS288X, 1012delA. ClinVar contains an entry for this variant (Variation ID: 38434). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000031992 SCV000054693 pathologic Mucolipidosis type II 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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