ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.1006+5G>A (rs587780422)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118039 SCV000152364 likely pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 2014-01-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725964 SCV000340882 uncertain significance not provided 2016-03-29 criteria provided, single submitter clinical testing
GeneDx RCV000725964 SCV000617438 uncertain significance not provided 2017-10-18 criteria provided, single submitter clinical testing The c.1006+5 G>A variant has been reported previously in an individual with Walker-Warburg syndrome who had a second POMT2 variant identified; however, parental studies were not performed (Manzini et al., 2008). The c.1006+5 G>A variant is observed in 5/111,398 (0.004%) alleles from individuals of European background (Lek et al., 2016). The c.1006+5 G>A variant is predicted to destroy the natural splice donor site in intron 8. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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