ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.643-3C>T

gnomAD frequency: 0.00001  dbSNP: rs529845435
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606959 SCV000719321 likely benign not specified 2017-05-10 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001860277 SCV002206785 uncertain significance Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2023-03-17 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. ClinVar contains an entry for this variant (Variation ID: 509511). This variant has not been reported in the literature in individuals affected with TPM3-related conditions. This variant is present in population databases (rs529845435, gnomAD 0.0009%). This sequence change falls in intron 6 of the TPM3 gene. It does not directly change the encoded amino acid sequence of the TPM3 protein. It affects a nucleotide within the consensus splice site.
Revvity Omics, Revvity RCV003139912 SCV003820930 uncertain significance not provided 2023-07-12 criteria provided, single submitter clinical testing

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