ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.567-4A>C

gnomAD frequency: 0.00001  dbSNP: rs199517163
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000706350 SCV000835394 uncertain significance Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2022-04-11 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the TPM3 gene. It does not directly change the encoded amino acid sequence of the TPM3 protein. This variant is present in population databases (rs199517163, gnomAD 0.005%). 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: 582310). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Illumina Laboratory Services, Illumina RCV001097047 SCV001253298 uncertain significance Congenital myopathy 4B, autosomal recessive 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001097048 SCV001253299 uncertain significance Congenital myopathy with fiber type disproportion 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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