ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1581del (p.Cys528fs) (rs36007394)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000031968 SCV000699473 pathogenic I cell disease 2016-08-25 criteria provided, single submitter clinical testing Variant summary: The GNPTAB c.1581delC (p.Cys528Valfs) variant results in a premature termination codon, predicted to cause a truncated or absent GNPTAB protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 26/121412 (1/4670), which does not exceed the estimated maximal expected allele frequency for a pathogenic GNPTAB variant of 1/447. The variant of interest has been reported in multiple affected individuals as homozygotes and compound hetereozygotes. In addition, GeneReviews cites the variant as "pathogenic." Therefore, the variant of interest has been classified as Pathogenic.
Counsyl RCV000669422 SCV000794172 pathogenic I cell disease; Pseudo-Hurler polydystrophy 2017-09-18 criteria provided, single submitter clinical testing
GeneReviews RCV000031968 SCV000054661 pathologic I cell disease 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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