ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.642+2T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002581536 SCV003488981 likely pathogenic Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2023-04-24 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 2172695). This variant has not been reported in the literature in individuals affected with TPM3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 6 of the TPM3 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TPM3 are known to be pathogenic (PMID: 10619715, 27858751).
Revvity Omics, Revvity RCV003138517 SCV003820932 uncertain significance not provided 2020-12-03 criteria provided, single submitter clinical testing

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