ClinVar Miner

Submissions for variant NM_032520.5(GNPTG):c.196C>T (p.Arg66Ter)

gnomAD frequency: 0.00001  dbSNP: rs193302848
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000020916 SCV000745459 pathogenic GNPTG-mucolipidosis 2015-09-21 criteria provided, single submitter clinical testing
Counsyl RCV000020916 SCV000794799 pathogenic GNPTG-mucolipidosis 2017-10-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000020916 SCV002045556 pathogenic GNPTG-mucolipidosis 2021-11-07 criteria provided, single submitter clinical testing
Invitae RCV001699180 SCV003443015 pathogenic not provided 2023-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg66*) in the GNPTG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GNPTG are known to be pathogenic (PMID: 19370764, 20301784). This variant is present in population databases (rs193302848, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with mucolipidosis type III gamma (PMID: 15060128, 28950892). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 21713). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000020916 SCV000041523 not provided GNPTG-mucolipidosis no assertion provided literature only
Clinical Genetics, Academic Medical Center RCV001699180 SCV001925987 pathogenic not provided no assertion criteria provided clinical testing

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