ClinVar Miner

Submissions for variant NM_001278188.2(TPM3):c.69-3046CTGAGG[3]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002866762 SCV003232382 uncertain significance Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2022-08-29 criteria provided, single submitter clinical testing This variant, c.251_256dup, results in the insertion of 2 amino acid(s) of the TPM3 protein (p.Ala84_Glu85dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). 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. This variant has not been reported in the literature in individuals affected with TPM3-related conditions.

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