ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1551+1G>A (rs786204553)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169269 SCV000220569 likely pathogenic Ceroid lipofuscinosis neuronal 2 2014-07-31 criteria provided, single submitter literature only
GeneDx RCV000524081 SCV000617419 pathogenic not provided 2015-12-29 criteria provided, single submitter clinical testing The c.1551+1 G>A splice site variant in the TPP1 gene has been previously reported in an individual with cLINCL who had a second TPP1 variant on the other allele (Wang et al., 2011). This pathogenic variant destroys the canonical splice donor site in intron 12, and is expected to cause abnormal gene splicing. Additionally, different variants at the same position (c.1551+1 G>T, c.1551+1 G>C) have been reported previously in association with cLINCL (Stenson et al., 2014). Therefore, c.1551+1 G>A is considered to be a pathogenic variant.

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