ClinVar Miner

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

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Total submissions: 9
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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.
Athena Diagnostics Inc RCV000081807 SCV001145193 pathogenic not provided 2018-11-27 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.
Invitae RCV001039421 SCV001202951 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 2019-10-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg311*) in the POMGNT1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with muscular dystrophy-dystroglycanopathy (PMID: 17030669, 22554691). ClinVar contains an entry for this variant (Variation ID: 56610). Loss-of-function variants in POMGNT1 are known to be pathogenic (PMID: 19299310). For these reasons, this variant has been classified as Pathogenic.
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.
Counsyl RCV000984204 SCV001132271 likely pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 2015-04-02 no assertion criteria provided clinical testing
Counsyl RCV000984205 SCV001132272 likely pathogenic Retinitis pigmentosa 76 2015-04-02 no assertion criteria provided clinical testing
Counsyl RCV000050023 SCV001132471 likely pathogenic Muscle eye brain disease 2015-04-02 no assertion criteria provided clinical testing
Counsyl RCV000984300 SCV001132472 likely pathogenic Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 2015-04-02 no assertion criteria provided clinical testing

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