ClinVar Miner

Submissions for variant NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter) (rs386834039)

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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 RCV000081807 SCV000113742 pathogenic not provided 2013-06-11 criteria provided, single submitter clinical testing
GeneDx RCV000081807 SCV000617417 pathogenic not provided 2018-12-24 criteria provided, single submitter clinical testing The R311X variant in the POMGNT1 gene has been reported previously in two unrelated individuals with muscle eye brain disease, both of whom harbored a second POMGNT1 variant (Biancheri et al., 2006; Saredi et al., 2012). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R311X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R311X as a pathogenic variant.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050023 SCV000082432 probable-pathogenic Muscle eye brain disease no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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