ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1403+2dup (rs1489442842)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658355 SCV000780127 likely pathogenic not provided 2018-05-22 criteria provided, single submitter clinical testing The c.1403+2dupT variant in the PYGM gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 11. It 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 c.1403+2dupT variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.1403+2dupT as a likely pathogenic variant.

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