ClinVar Miner

Submissions for variant NM_006940.6(SOX5):c.1597+2T>A

dbSNP: rs1555141265
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522399 SCV000617109 pathogenic not provided 2017-10-26 criteria provided, single submitter clinical testing The c.1597+2T>A variant in the SOX5 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 12. 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.1597+2T>A variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1597+2T>A as a pathogenic variant.
Institute for Human Genetics, University Hospital Essen RCV000857296 SCV000999890 pathogenic Lamb-Shaffer syndrome 2019-08-05 no assertion criteria provided clinical testing

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