ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.87_91del (p.Gln30fs)

dbSNP: rs2148295371
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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 RCV001884898 SCV002159328 pathogenic Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2024-01-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln30Alafs*7) in the TPM3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TPM3 are known to be pathogenic (PMID: 10619715, 27858751). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TPM3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1394827). For these reasons, this variant has been classified as Pathogenic.

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