ClinVar Miner

Submissions for variant NM_000157.4(GBA):c.1279G>T (p.Glu427Ter) (rs149171124)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000607009 SCV000712549 likely pathogenic Gaucher disease 2016-11-21 criteria provided, single submitter clinical testing The p.Glu427X variant in GBA has not been previously reported in patients with G aucher disease and was absent from large population studies. This nonsense varia nt leads to a premature termination codon at position 427, which is predicted to lead to a truncated or absent protein. Biallelic mutations (including loss of f unction) in the GBA gene cause Gaucher disease. In summary, this variant meets c riteria to be classified as likely pathogenic for Gaucher disease in an autosoma l recessive manner based upon predicted null effect. Please note that, due to th e technical limitations of the next generation sequencing and Sanger confirmatio n assays, the GBA pseudogene cannot be reliably avoided. Therefore, before makin g clinical decisions regarding this variant, further testing via targeted assays that guarantee avoidance of GBA pseudogene would be required to confirm the pre sence of this variant.

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