ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1551+5G>A

gnomAD frequency: 0.00003  dbSNP: rs778756815
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522147 SCV000621502 uncertain significance not provided 2017-10-12 criteria provided, single submitter clinical testing The c.1551+5 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Several in-silico splice prediction models predict that c.1551+5 G>A destroys or damages the natural splice donor site in intron 12, which may lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual isunknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Ambry Genetics RCV002404352 SCV002704853 uncertain significance Inborn genetic diseases 2018-11-16 criteria provided, single submitter clinical testing The c.1551+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 12 in the TPP1 gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001829527 SCV002094794 uncertain significance Neuronal ceroid lipofuscinosis 2 2021-03-12 no assertion criteria provided clinical testing

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