ClinVar Miner

Submissions for variant NM_017739.3(POMGNT1):c.1738C>T (p.Arg580Ter) (rs386834018)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049999 SCV000220156 likely pathogenic Muscle eye brain disease 2014-03-12 criteria provided, single submitter literature only
Invitae RCV000818740 SCV000959370 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 2018-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg580*) in the POMGNT1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs386834018, ExAC 0.002%). This variant has been observed in combination with another POMGNT1 variant in individuals affected with muscular dystrophy-dystroglycanopathy (PMID: 17906881, 19067344). ClinVar contains an entry for this variant (Variation ID: 56586). 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) RCV000049999 SCV000082408 probable-pathogenic Muscle eye brain disease no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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