ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.563+15G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003811025 SCV004611996 uncertain significance Arthrogryposis, distal, type 1A 2023-07-03 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the TPM2 gene. It does not directly change the encoded amino acid sequence of the TPM2 protein. This variant is present in population databases (rs759495779, gnomAD 0.008%). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with TPM2-related conditions.

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