ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.228C>T (p.Tyr76=)

gnomAD frequency: 0.00004  dbSNP: rs373318861
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189740 SCV000243388 benign not specified 2015-01-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001852518 SCV002112551 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This sequence change affects codon 76 of the TPP1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TPP1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs373318861, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with TPP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 207550). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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