ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.887-18A>G (rs935526225)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428562 SCV000520944 likely pathogenic not provided 2017-01-05 criteria provided, single submitter clinical testing The c.887-18 A>G variant has been reported previously in an individual with late-infantile neuronal ceroid lipofuscinosis who had a second TPP1 variant identified (Sleat et al., 1999). This study reported the variant as 4188 A>G due to use of alternative nomenclature (Sleat et al., 1999). The c.887-18 A>G variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server) Several in-silico splice prediction models do not predict the c.887-18 A>G variant to affect splicing. Additionally, this substitution occurs at a position that is not conserved. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. GeneDx interprets c.887-18 A>G as a likely pathogenic variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000428562 SCV000863394 uncertain significance not provided 2018-09-13 criteria provided, single submitter clinical testing
Counsyl RCV000984313 SCV001132496 uncertain significance Ceroid lipofuscinosis neuronal 2 2019-01-23 no assertion criteria provided clinical testing

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