ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.1484+1G>T (rs727502857)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000150024 SCV000196884 pathogenic not provided 2014-06-25 criteria provided, single submitter clinical testing c.1484+1 G>T: IVS13+1 G>T in intron 13 of the POMT2 gene (NM_013382.5). The c.1484+1 G>T splice site mutation in the POMT2 gene destroys the canonical splice donor site in intron 13 and is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product if the message is used for protein translation. The variant is found in BRAINMALFORMATION panel(s).

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