ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.1417C>T (p.Arg473Ter) (rs368817785)

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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 RCV000081565 SCV000113496 pathogenic not provided 2013-06-11 criteria provided, single submitter clinical testing
GeneDx RCV000081565 SCV000196882 pathogenic not provided 2014-06-25 criteria provided, single submitter clinical testing p.Arg473Stop (CGA>TGA): c.1417 C>T in exon 13 of the POMT2 gene (NM_013382.5). The R473X nonsense mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in BRAINMALFORMATION panel(s).
Invitae RCV000705738 SCV000834751 pathogenic Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 2018-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg473*) in the POMT2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs368817785, ExAC 0.01%). This variant has not been reported in the literature in individuals with POMT2-related disease. ClinVar contains an entry for this variant (Variation ID: 95535). Loss-of-function variants in POMT2 are known to be pathogenic (PMID: 15894594). For these reasons, this variant has been classified as Pathogenic.

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