ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.855-1G>A

gnomAD frequency: 0.00002  dbSNP: rs113605263
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689419 SCV000817067 uncertain significance Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2022-08-06 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). Studies have shown that this variant is associated with altered splicing resulting in multiple RNA products (PMID: 12196661). ClinVar contains an entry for this variant (Variation ID: 12448). This variant has been observed in individual(s) with autosomal recessive congenital myopathy (PMID: 12196661). This variant is present in population databases (rs113605263, gnomAD 0.01%). This sequence change falls in intron 9 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 RCV000128706 SCV003820937 uncertain significance not provided 2022-03-25 criteria provided, single submitter clinical testing
OMIM RCV000013261 SCV000033508 pathogenic Congenital myopathy 4B, autosomal recessive 2002-08-27 no assertion criteria provided literature only
TPM3 homepage - Leiden Muscular Dystrophy pages RCV000128706 SCV000172346 not provided not provided no assertion provided not provided

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