ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.639+6G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002643550 SCV002979737 uncertain significance Arthrogryposis, distal, type 1A 2022-01-14 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with TPM2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change falls in intron 6 of the TPM2 gene. It does not directly change the encoded amino acid sequence of the TPM2 protein. It affects a nucleotide within the consensus splice site.

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