ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.2308del (p.Val770fs)

dbSNP: rs1953057183
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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 RCV001219430 SCV001391368 pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2022-11-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 948216). This variant has not been reported in the literature in individuals affected with GNPTAB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val770Phefs*10) 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).

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