ClinVar Miner

Submissions for variant NM_017739.3(POMGNT1):c.1769G>A (p.Trp590Ter) (rs386834019)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000050000 SCV000221091 likely pathogenic Muscle eye brain disease 2015-01-28 criteria provided, single submitter literature only
Invitae RCV000820354 SCV000961063 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 2019-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp590*) 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 several individuals affected with muscle-eye-brain (MEB) disease (PMID: 21361872, 15466003). ClinVar contains an entry for this variant (Variation ID: 56587). 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) RCV000050000 SCV000082409 probable-pathogenic Muscle eye brain disease no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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