ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.887-10A>G (rs755445790)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000359791 SCV000344872 uncertain significance not provided 2016-09-15 criteria provided, single submitter clinical testing
Invitae RCV001222510 SCV001394610 pathogenic Neuronal ceroid lipofuscinosis 2019-08-19 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the TPP1 gene. It does not directly change the encoded amino acid sequence of the TPP1 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed to segregate with neuronal ceroid lipofuscinosis in a family, and has also been observed in unrelated affected individuals (PMID: 17959406, 23266810). It is also known as IVS7-10A>G in the literature. ClinVar contains an entry for this variant (Variation ID: 2649). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 17959406). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002768 SCV000022926 pathogenic Ceroid lipofuscinosis neuronal 2 2008-01-01 no assertion criteria provided literature only

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