ClinVar Miner

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

gnomAD frequency: 0.00003  dbSNP: 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 2022-01-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 31283065, 25525159, 10477428, 21990111, 10330339)
Eurofins Ntd Llc (ga) RCV000428562 SCV000863394 uncertain significance not provided 2018-09-13 criteria provided, single submitter clinical testing
Counsyl RCV000984313 SCV001132496 uncertain significance Neuronal ceroid lipofuscinosis 2 2019-01-23 no assertion criteria provided clinical testing

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