ClinVar Miner

Submissions for variant NM_032520.5(GNPTG):c.324G>A (p.Trp108Ter) (rs1060499690)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics RCV000449610 SCV000537780 likely pathogenic Mucolipidosis III Gamma 2016-01-01 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825527 SCV000966842 likely pathogenic Mucolipidosis 2018-03-02 criteria provided, single submitter clinical testing The p.Trp108X variant in GNPTG has not been previously reported in the literatur e and was absent from large population studies, but has been reported in ClinVar (Variation ID #397575). This nonsense variant leads to a premature termination codon at position 108 which is predicted to lead to a truncated or absent protei n. Loss of function is a reported mechanism of disease for this gene. In summary , although additional studies are required to fully establish its clinical signi ficance, the p.Trp108X variant is likely pathogenic for Mucolipidosis III gamma based on predicted impact on protein and absence from the general population. AC MG/AMP Criteria applied: PM2, PVS1

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