ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.220del (p.Ala74fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003132929 SCV003812141 likely pathogenic not provided 2022-11-07 criteria provided, single submitter clinical testing
Invitae RCV003514606 SCV004314728 pathogenic Arthrogryposis, distal, type 1A 2023-08-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2434210). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with TPM2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala74Profs*15) in the TPM2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TPM2 are known to be pathogenic (PMID: 19155175, 27726070).

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