ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) (rs137852897)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664622 SCV000788618 pathogenic I cell disease; Pseudo-Hurler polydystrophy 2017-04-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723447 SCV000226963 pathogenic not provided 2014-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000723447 SCV000890263 pathogenic not provided 2018-09-10 criteria provided, single submitter clinical testing The R1189X nonsense variant in the GNPTAB gene has been reported previously in association with mucolipidosis II and III in several unrelated individuals who were homozygous for R1189X or heterozygous for R1189X and another variant in the GNPTAB gene (Paik et al., 2005; Otomo et al. 2009; Yang et al. 2017). The R1189X variant is a common pathogenic variant in several East Asian populations (Otomo et al. 2009). The R1189X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
GeneReviews RCV000002892 SCV000054685 pathologic Pseudo-Hurler polydystrophy 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
GeneReviews RCV000002891 SCV000055990 pathologic I cell disease 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000002891 SCV000023049 pathogenic I cell disease 2009-03-01 no assertion criteria provided literature only
OMIM RCV000002892 SCV000023050 pathogenic Pseudo-Hurler polydystrophy 2009-03-01 no assertion criteria provided literature only

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