ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1145+1G>A

dbSNP: rs113019349
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411197 SCV000485427 likely pathogenic Neuronal ceroid lipofuscinosis 2 2015-12-09 criteria provided, single submitter clinical testing
Invitae RCV001378362 SCV001575914 likely pathogenic not provided 2018-08-07 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TPP1 are known to be pathogenic (PMID: 10330339). This variant has not been reported in the literature in individuals with TPP1-related disease. ClinVar contains an entry for this variant (Variation ID: 370180). This sequence change affects a donor splice site in intron 9 of the TPP1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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