ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.509-1G>T (rs56144125)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000391641 SCV000330101 pathogenic not provided 2015-12-31 criteria provided, single submitter clinical testing The c.509-1 G>T pathogenic variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.509-1 G>T splice site variant in the TPP1 gene destroys the canonical splice acceptor site in intron 5. 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. Additionally, variants at the same canonical splice acceptor site have been reported in Human Gene Mutation Database in association with late-infantile neuronal ceroid lipofuscinosis (Stenson et al., 2014). Therefore, c.509-1 G>T is considered to be a pathogenic variant.
Counsyl RCV000666428 SCV000790719 likely pathogenic Ceroid lipofuscinosis neuronal 2 2017-04-06 criteria provided, single submitter clinical testing

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