ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.225A>G (p.Gln75=) (rs368709098)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668623 SCV000793256 uncertain significance Ceroid lipofuscinosis neuronal 2 2017-08-08 criteria provided, single submitter clinical testing
Invitae RCV001215564 SCV001387315 likely pathogenic Neuronal ceroid lipofuscinosis 2019-10-16 criteria provided, single submitter clinical testing This sequence change affects codon 75 of the TPP1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TPP1 protein. This variant is present in population databases (rs368709098, ExAC 0.03%). This variant has been observed in individual(s) with clinical features of neuronal ceroid lipofuscinoses (PMID: 10330339, 23418007). This variant is also known as 1946A>G in the literature. ClinVar contains an entry for this variant (Variation ID: 553222). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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