ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.749dup (p.Asn250fs) (rs281864964)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790667 SCV000232300 pathogenic not provided 2014-05-22 criteria provided, single submitter clinical testing
GeneReviews RCV000032354 SCV000056001 pathologic I cell disease 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000780320 SCV000917487 likely pathogenic Mucolipidosis 2018-08-13 criteria provided, single submitter clinical testing Variant summary: GNPTAB c.749dupA (p.Asn250LysfsX5) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. p.Arg364X, p.Arg375X, and p.Cys528fsX19). The variant allele was found at a frequency of 4.1e-06 in 246242 control chromosomes. c.749dupA has been reported in the literature in compound heterozygosity with a known pathogenic variant in individual(s) affected with Mucolipidosis type II, supporting variant's pathogenicity. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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