ClinVar Miner

Submissions for variant NM_017739.3(POMGNT1):c.593del (p.Ser198fs) (rs386834031)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001390609 SCV001592398 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 2020-04-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser198Thrfs*43) 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 individual(s) with muscle–eye–brain disease (PMID: 17906881). ClinVar contains an entry for this variant (Variation ID: 56601). Loss-of-function variants in POMGNT1 are known to be pathogenic (PMID: 19299310, 20816175, 21447391, 26908613, 27391550). For these reasons, this variant has been classified as Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050014 SCV000082423 probable-pathogenic Muscle eye brain disease no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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