ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.1019_1020insA (p.Trp340Ter) (rs398123197)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078259 SCV000110099 pathogenic not provided 2012-11-26 criteria provided, single submitter clinical testing
GeneDx RCV000078259 SCV001167762 likely pathogenic not provided 2018-03-29 criteria provided, single submitter clinical testing The c.1019_1020insA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1019_1020insA variant is not observed in large population cohorts (Lek et al., 2016). The insertion causes the replacement of a Tryptophan residue at position 340 with a Stop codon, denoted p.Trp340Ter. This variant is predicted to cause loss of normal protein function through protein truncation. In summary, we interpret c.1019_1020insA to be a likely pathogenic variant. Approximately 60-70% of females with a single GLA variant have some disease manifestations, and 10% of these individuals present with a disease severity that is similar to that of affected males (Bennett et al., 2002).

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