ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter)

gnomAD frequency: 0.00001  dbSNP: rs281864969
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180686 SCV000233165 pathogenic not provided 2013-02-14 criteria provided, single submitter clinical testing
Counsyl RCV000668032 SCV000792575 likely pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2017-07-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000668032 SCV001591072 pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2023-10-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg334*) 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 (rs281864969, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with mucolipdosis (PMID: 19617216). ClinVar contains an entry for this variant (Variation ID: 39017). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000180686 SCV002568646 pathogenic not provided 2022-02-23 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 33486335, 30882951, 19617216, 29872134)
Revvity Omics, Revvity RCV000180686 SCV003824664 pathogenic not provided 2022-01-23 criteria provided, single submitter clinical testing
GeneReviews RCV000032282 SCV000055925 not provided Pseudo-Hurler polydystrophy no assertion provided literature only
Natera, Inc. RCV001826535 SCV002088598 pathogenic Mucolipidosis type II 2021-04-19 no assertion criteria provided clinical testing

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